5116[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC130066574, LOC130066575 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC130066796, LOC130066797 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC130066513, LOC130066514 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC126653326, LOC126653327 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	LOC130066833, LOC130066834 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	CBR1-AS1, CBR3 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC130066700, LOC130066701 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC130066665, LOC130066666 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653316, LOC126653317 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	LOC130066758, LOC130066759 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066436, LOC130066437 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	KRTAP13-3, KRTAP13-4 +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, MIR6814 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC130066541, LOC130066542 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066593, LOC130066594 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066830, LOC130066831 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC129391220, LOC129391221 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LOC130066733, LOC130066734 +643 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	AATBC, ABCG1 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	LOC130066879, LOC130066880 +568 more	Copy number gain	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AGPAT3, AIRE +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	LOC130066848, LOC130066849 +482 more	Copy number loss	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	LOC108254685, LOC108281139 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	AATBC, ABCG1 +416 more	Copy number loss	See cases	GPathogenic
Select item 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	LOC130066823, LOC130066824 +376 more	Copy number loss	See cases	GPathogenic
Select item 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	AATBC, ABCG1 +340 more	Copy number loss	See cases	GPathogenic
Select item 57115	GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1	LOC130066810, LOC130066811 +334 more	Copy number loss	See cases	GPathogenic
Select item 154533	GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1	LOC130066817, LOC130066818 +276 more	Copy number loss	See cases	GPathogenic
Select item 144193	GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1	AATBC, ADARB1 +268 more	Copy number loss	See cases	GPathogenic
Select item 545245	Single allele	AATBC, ADARB1 +245 more	Duplication	Autism	GLikely pathogenic
Select item 59046	GRCh38/hg38 21q22.3(chr21:45110477-46648012)x1	ADARB1, BNAT1 +89 more	Copy number loss	See cases	GPathogenic
Select item 59068	GRCh38/hg38 21q22.3(chr21:45138321-46670405)x1	ADARB1, BNAT1 +89 more	Copy number loss	See cases	GPathogenic
Select item 59069	GRCh38/hg38 21q22.3(chr21:45801860-46670405)x1	LOC130066868, LOC130066869 +52 more	Copy number loss	See cases	GPathogenic
Select item 148754	GRCh38/hg38 21q22.3(chr21:45877354-46543273)x3	C21orf58, COL6A1 +44 more	Copy number gain	See cases	GLikely benign
Select item 153558	GRCh38/hg38 21q22.3(chr21:45903036-46677460)x1	C21orf58, COL6A1 +50 more	Copy number loss	See cases	GUncertain significance
Select item 57251	GRCh38/hg38 21q22.3(chr21:46214279-46670405)x1	C21orf58, DIP2A +34 more	Copy number loss	See cases	GUncertain significance
Select item 1210752	NC_000021.9:g.46323895del	LOC130066875, PCNT	Deletion	not provided	GLikely benign
Select item 1300651	NC_000021.9:g.46324025C>T	LOC130066875, PCNT	Single nucleotide variant	not provided	GLikely benign
Select item 1228801	NC_000021.9:g.46324040C>T	LOC130066875, PCNT	Single nucleotide variant	not provided	GBenign
Select item 1194669	NC_000021.9:g.46324062C>T	LOC130066875, PCNT	Single nucleotide variant	not provided	GLikely benign
Select item 340454	NM_006031.5(PCNT):c.-100dup	LOC130066875, PCNT	Duplication	Microcephalic osteodysplastic primordial dwarfism	GUncertain significance
Select item 340455	NM_006031.5(PCNT):c.-100delG	LOC130066875, PCNT	Deletion	Microcephalic osteodysplastic primordial dwarfism	GBenign
Select item 340456	NM_006031.5(PCNT):c.-75G>A	LOC130066875, PCNT	Single nucleotide variant	Microcephalic osteodysplastic primordial dwarfism	GUncertain significance
Select item 340457	NM_006031.6(PCNT):c.-35T>A	PCNT, LOC130066875	Single nucleotide variant (5 prime UTR variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 899366	NM_006031.6(PCNT):c.-33A>G	LOC130066875, PCNT	Single nucleotide variant (5 prime UTR variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 340458	NM_006031.6(PCNT):c.-25G>C	LOC130066875, PCNT	Single nucleotide variant (5 prime UTR variant)	Microcephalic osteodysplastic primordial dwarfism type II	GLikely benign
Select item 138617	NM_006031.6(PCNT):c.-16G>T	LOC130066875, PCNT	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 669290	NM_006031.6(PCNT):c.-15C>G	LOC130066875, PCNT	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 3042562	NM_006031.6(PCNT):c.-6A>T	PCNT	Single nucleotide variant (5 prime UTR variant)	PCNT-related condition	GLikely benign
Select item 1330623	NM_006031.6(PCNT):c.7G>C (p.Val3Leu)	PCNT (V3L)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GLikely benign
Select item 436252	NM_006031.6(PCNT):c.16G>C (p.Glu6Gln)	PCNT (E6Q)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II +2 more	GUncertain significance
Select item 2802826	NM_006031.6(PCNT):c.21G>A (p.Gln7=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842161	NM_006031.6(PCNT):c.25_34del (p.Arg9fs)	PCNT (R9fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3012548	NM_006031.6(PCNT):c.24G>A (p.Arg8=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 282936	NM_006031.6(PCNT):c.24G>C (p.Arg8=)	PCNT	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2974053	NM_006031.6(PCNT):c.27C>T (p.Arg9=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3061468	NM_006031.6(PCNT):c.29G>C (p.Arg10Thr)	PCNT (R10T)	Single nucleotide variant (missense variant)	PCNT-related condition	GUncertain significance
Select item 2955736	NM_006031.6(PCNT):c.33G>A (p.Lys11=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713023	NM_006031.6(PCNT):c.36G>A (p.Val12=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880569	NM_006031.6(PCNT):c.45G>A (p.Gly15=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836290	NM_006031.6(PCNT):c.45G>C (p.Gly15=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859900	NM_006031.6(PCNT):c.46A>C (p.Arg16=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1629998	NM_006031.6(PCNT):c.48G>A (p.Arg16=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 517931	NM_006031.6(PCNT):c.49A>G (p.Thr17Ala)	PCNT (T17A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2729938	NM_006031.6(PCNT):c.51G>C (p.Thr17=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related condition +1 more	GLikely benign
Select item 2634215	NM_006031.6(PCNT):c.54G>A (p.Lys18=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related condition	GUncertain significance
Select item 138618	NM_006031.6(PCNT):c.54+6C>T	PCNT	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2836081	NM_006031.6(PCNT):c.54+8_54+10del	PCNT	Deletion (intron variant)	not provided	GLikely benign
Select item 1598158	NM_006031.6(PCNT):c.54+9T>A	PCNT	Single nucleotide variant (intron variant)	PCNT-related condition +1 more	GLikely benign
Select item 2962712	NM_006031.6(PCNT):c.54+12G>C	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973095	NM_006031.6(PCNT):c.54+13G>A	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1641689	NM_006031.6(PCNT):c.54+14G>A	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001656	NM_006031.6(PCNT):c.54+20T>A	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2698399	NM_006031.6(PCNT):c.54+20T>C	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214065	NM_006031.6(PCNT):c.54+141C>T	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211515	NM_006031.6(PCNT):c.54+161C>T	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247194	NM_006031.6(PCNT):c.54+271_54+275dup	LOC130066876, PCNT	Duplication (intron variant)	not provided	GBenign
Select item 1276503	NM_006031.6(PCNT):c.54+287_54+288insTG	LOC130066876, PCNT	Insertion (intron variant)	not provided	GBenign
Select item 1228060	NM_006031.6(PCNT):c.54+286_54+287insT	LOC130066876, PCNT	Insertion (intron variant)	not provided	GBenign
Select item 2767584	NM_001414902.1(LOC128092249):c.71T>A (p.Leu24Ter)	LOC128092249, PCNT (L24*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 2873056	NM_001414902.1(LOC128092249):c.72A>G (p.Leu24=)	LOC128092249, PCNT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2969302	NM_001414902.1(LOC128092249):c.73del (p.Ser25fs)	LOC128092249, PCNT (S25fs)	Deletion (frameshift variant +1 more)	not provided	GLikely benign
Select item 2876449	NM_001414902.1(LOC128092249):c.73T>A (p.Ser25Thr)	LOC128092249, PCNT (S25T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2829463	NM_001414902.1(LOC128092249):c.75T>C (p.Ser25=)	LOC128092249, PCNT	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2977281	NM_001414902.1(LOC128092249):c.76A>G (p.Thr26Ala)	LOC128092249, PCNT (T26A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2788694	NM_001414902.1(LOC128092249):c.77C>T (p.Thr26Ile)	LOC128092249, PCNT (T26I)	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2834496	NM_001414902.1(LOC128092249):c.83T>G (p.Leu28Trp)	LOC128092249, PCNT (L28W)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 159620	NM_006031.6(PCNT):c.55-5C>T	LOC128092249, PCNT	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3036344	NM_001414902.1(LOC128092249):c.86G>T (p.Arg29Leu)	LOC128092249, PCNT (R29L)	Single nucleotide variant (missense variant +1 more)	PCNT-related condition	GLikely benign

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