1180[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	KMT2C, KMT2E +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	CPA1, CPA2 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC126860238, LOC126860239 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	LOC126860241, LOC126860242 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	FAM180A, FASTK +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC105375610, LOC106049962 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	ABCB8, ABCF2 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LOC113687197, LOC113687198 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	PAXIP1-DT, PDIA4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999448, LOC129999449 +944 more	Copy number loss	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	ADCK2, AGBL3 +455 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	LOC129999488, LOC129999489 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	LOC123956279, LOC129389918 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	LOC129999557, LOC129999558 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC113687199, LOC126860237 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	ADCK2, AGK +230 more	Copy number gain	See cases	GUncertain significance
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ACTR3B, ABCB8 +737 more	Copy number loss	See cases	GPathogenic
Select item 144163	GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3	AGK, AGK-DT +192 more	Copy number gain	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC113687208, LOC113743971 +707 more	Copy number loss	See cases	GPathogenic
Select item 57046	GRCh38/hg38 7q34-35(chr7:142578948-144254897)x1	ARHGEF35, ARHGEF35-AS1 +110 more	Copy number loss	See cases	GPathogenic
Select item 1208518	NC_000007.14:g.143315964G>A	CLCN1	Single nucleotide variant	not provided	GLikely benign
Select item 679149	NM_000083.2(CLCN1):c.-135T>G	CLCN1	Single nucleotide variant	not provided	GBenign
Select item 2658114	NM_000083.3(CLCN1):c.-59C>A	CLCN1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 359088	NM_000083.3(CLCN1):c.-21C>T	CLCN1	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital myotonia, autosomal recessive form +4 more	GBenign/Likely benign
Select item 1272877	NM_000083.3(CLCN1):c.-16_-14delinsGGA	CLCN1	Indel (5 prime UTR variant +1 more)	not provided	GBenign
Select item 383610	NM_000083.3(CLCN1):c.-16C>G	CLCN1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 383611	NM_000083.3(CLCN1):c.-15T>G	CLCN1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 383612	NM_000083.3(CLCN1):c.-14C>A	CLCN1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 2951066	NM_000083.3(CLCN1):c.9A>G (p.Gln3=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 513471	NM_000083.3(CLCN1):c.13C>T (p.Arg5Trp)	CLCN1 (R5W)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2156515	NM_000083.3(CLCN1):c.14G>A (p.Arg5Gln)	CLCN1 (R5Q)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 2195596	NM_000083.3(CLCN1):c.15G>T (p.Arg5=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2936146	NM_000083.3(CLCN1):c.18A>G (p.Ser6=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 2939681	NM_000083.3(CLCN1):c.19C>T (p.Gln7Ter)	CLCN1 (Q7*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal dominant form +1 more	GPathogenic
Select item 1106235	NM_000083.3(CLCN1):c.24G>A (p.Gln8=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 660302	NM_000083.3(CLCN1):c.25C>A (p.Arg9Ser)	CLCN1 (R9S)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GUncertain significance
Select item 3753085	NM_000083.3(CLCN1):c.26G>C (p.Arg9Pro)	CLCN1 (R9P)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 359089	NM_000083.3(CLCN1):c.26G>A (p.Arg9His)	CLCN1 (R9H)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +4 more	GBenign/Likely benign
Select item 2946205	NM_000083.3(CLCN1):c.32del (p.Gly11fs)	CLCN1 (G11fs)	Deletion (frameshift variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GPathogenic/Likely pathogenic
Select item 582403	NM_000083.3(CLCN1):c.32G>C (p.Gly11Ala)	CLCN1 (G11A)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GUncertain significance
Select item 1632022	NM_000083.3(CLCN1):c.33T>C (p.Gly11=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 2948804	NM_000083.3(CLCN1):c.36del (p.Glu12fs)	CLCN1 (E12fs)	Deletion (frameshift variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GPathogenic
Select item 3340660	NM_000083.3(CLCN1):c.37C>T (p.Gln13Ter)	CLCN1 (Q13*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 422402	NM_000083.3(CLCN1):c.37C>A (p.Gln13Lys)	CLCN1 (Q13K)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 2940227	NM_000083.3(CLCN1):c.43T>C (p.Trp15Arg)	CLCN1 (W15R)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GUncertain significance
Select item 580190	NM_000083.3(CLCN1):c.50_434-202del	CLCN1	Deletion (splice acceptor variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GPathogenic
Select item 1324083	NM_000083.3(CLCN1):c.47G>A (p.Trp16Ter)	CLCN1 (W16*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal dominant form +1 more	GPathogenic/Likely pathogenic
Select item 2139436	NM_000083.3(CLCN1):c.53G>T (p.Ser18Ile)	CLCN1 (S18I)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +3 more	GUncertain significance
Select item 2110120	NM_000083.3(CLCN1):c.61dup (p.Gln21fs)	CLCN1 (Q21fs)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2948639	NM_000083.3(CLCN1):c.57C>T (p.Asp19=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 2040067	NM_000083.3(CLCN1):c.61del (p.Gln21fs)	CLCN1 (Q21fs)	Deletion (frameshift variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GPathogenic
Select item 359090	NM_000083.3(CLCN1):c.57C>A (p.Asp19Glu)	CLCN1 (D19E)	Single nucleotide variant (missense variant +1 more)	Batten-Turner congenital myopathy	GUncertain significance
Select item 1391459	NM_000083.3(CLCN1):c.69G>C (p.Gln23His)	CLCN1 (Q23H)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 756553	NM_000083.3(CLCN1):c.69G>A (p.Gln23=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2100346	NM_000083.3(CLCN1):c.81T>A (p.Phe27Leu)	CLCN1 (F27L)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GUncertain significance
Select item 3594409	NM_000083.3(CLCN1):c.91_106del (p.Thr31fs)	CLCN1 (T31fs)	Deletion (frameshift variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely pathogenic
Select item 359091	NM_000083.3(CLCN1):c.86A>C (p.His29Pro)	CLCN1 (H29P)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +4 more	GBenign/Likely benign
Select item 1408488	NM_000083.3(CLCN1):c.91A>G (p.Thr31Ala)	CLCN1 (T31A)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GUncertain significance
Select item 1151640	NM_000083.3(CLCN1):c.99C>T (p.Tyr33=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 1069498	NM_000083.3(CLCN1):c.99C>A (p.Tyr33Ter)	CLCN1 (Y33*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal recessive form +1 more	GPathogenic
Select item 531756	NM_000083.3(CLCN1):c.100G>A (p.Gly34Arg)	CLCN1 (G34R)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 2951256	NM_000083.3(CLCN1):c.105G>C (p.Leu35=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 2113887	NM_000083.3(CLCN1):c.107C>T (p.Pro36Leu)	CLCN1 (P36L)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GUncertain significance
Select item 2943446	NM_000083.3(CLCN1):c.108C>G (p.Pro36=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 1085133	NM_000083.3(CLCN1):c.108C>T (p.Pro36=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 3145391	NM_000083.3(CLCN1):c.117T>G (p.Asn39Lys)	CLCN1 (N39K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 985235	NM_000083.3(CLCN1):c.122del (p.Gly41fs)	CLCN1 (G41fs)	Deletion (frameshift variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic/Likely pathogenic
Select item 2932980	NM_000083.3(CLCN1):c.120G>A (p.Gly40=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 531758	NM_000083.3(CLCN1):c.120G>C (p.Gly40=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GLikely benign
Select item 2942053	NM_000083.3(CLCN1):c.127C>T (p.Gln43Ter)	CLCN1 (Q43*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal dominant form +1 more	GPathogenic
Select item 837659	NM_000083.3(CLCN1):c.128A>C (p.Gln43Pro)	CLCN1 (Q43P)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GUncertain significance
Select item 1653879	NM_000083.3(CLCN1):c.132C>T (p.His44=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 462832	NM_000083.3(CLCN1):c.133A>G (p.Arg45Gly)	CLCN1 (R45G)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 2931824	NM_000083.3(CLCN1):c.135G>A (p.Arg45=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 531755	NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp)	CLCN1 (R47W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2069614	NM_000083.3(CLCN1):c.140G>A (p.Arg47Gln)	CLCN1 (R47Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1573862	NM_000083.3(CLCN1):c.144G>A (p.Lys48=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 745467	NM_000083.3(CLCN1):c.147T>C (p.Asp49=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2232527	NM_000083.3(CLCN1):c.148G>A (p.Ala50Thr)	CLCN1 (A50T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2934328	NM_000083.3(CLCN1):c.149C>G (p.Ala50Gly)	CLCN1 (A50G)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GUncertain significance
Select item 2934124	NM_000083.3(CLCN1):c.151G>A (p.Gly51Ser)	CLCN1 (G51S)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GUncertain significance
Select item 509537	NM_000083.3(CLCN1):c.153C>T (p.Gly51=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 847330	NM_000083.3(CLCN1):c.154C>G (p.Pro52Ala)	CLCN1 (P52A)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 359092	NM_000083.3(CLCN1):c.156C>T (p.Pro52=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +2 more	GConflicting classifications of pathogenicity
Select item 908062	NM_000083.3(CLCN1):c.157C>T (p.Arg53Cys)	CLCN1 (R53C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 3749244	NM_000083.3(CLCN1):c.158G>A (p.Arg53His)	CLCN1 (R53H)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GUncertain significance
Select item 2954219	NM_000083.3(CLCN1):c.158G>T (p.Arg53Leu)	CLCN1 (R53L)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GUncertain significance
Select item 3594410	NM_000083.3(CLCN1):c.160_176del (p.His54fs)	CLCN1 (H54fs)	Deletion (frameshift variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely pathogenic
Select item 711452	NM_000083.3(CLCN1):c.165C>T (p.Asn55=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2940940	NM_000083.3(CLCN1):c.166G>T (p.Val56Phe)	CLCN1 (V56F)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GUncertain significance
Select item 585684	NM_000083.3(CLCN1):c.166G>A (p.Val56Ile)	CLCN1 (V56I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1576617	NM_000083.3(CLCN1):c.168C>T (p.Val56=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GLikely benign
Select item 2128710	NM_000083.3(CLCN1):c.174del (p.Thr59fs)	CLCN1 (T59fs)	Deletion (frameshift variant +1 more)	Congenital myotonia, autosomal dominant form +1 more	GPathogenic
Select item 705860	NM_000083.3(CLCN1):c.174C>G (p.Pro58=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 763661	NM_000083.3(CLCN1):c.177A>G (p.Thr59=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form +1 more	GLikely benign
Select item 2671637	NM_000083.3(CLCN1):c.180G>A (p.Gln60=)	CLCN1	Single nucleotide variant (synonymous variant +1 more)	Congenital myotonia, autosomal recessive form	GUncertain significance
Select item 3594412	NM_000083.3(CLCN1):c.180+2_180+8del	CLCN1	Deletion (splice donor variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely pathogenic
Select item 3594411	NM_000083.3(CLCN1):c.180+1G>A	CLCN1	Single nucleotide variant (splice donor variant)	Congenital myotonia, autosomal recessive form +1 more	GLikely pathogenic

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