54862[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	MIR181C, MIR181D +484 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064157, LOC130064158 +2135 more	Copy number gain	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	ACP5, ADGRL1 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	ADGRE2, ADGRE3 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 57362	GRCh38/hg38 19p13.13-13.12(chr19:13533925-14258833)x1	ADGRL1, ADGRL1-AS1 +87 more	Copy number loss	See cases	GUncertain significance
Select item 2377163	NM_017721.5(CC2D1A):c.5A>T (p.His2Leu)	CC2D1A (H2L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 434611	NM_017721.5(CC2D1A):c.15_23dup (p.7_9PPG[3])	CC2D1A	Duplication (inframe_insertion)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 588648	NM_017721.5(CC2D1A):c.16G>A (p.Gly6Arg)	CC2D1A (G6R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 377071	NM_017721.5(CC2D1A):c.18ACCCCCGGG[1] (p.7PPG[1])	CC2D1A	Microsatellite (inframe_deletion)	Intellectual disability, autosomal recessive 3 +1 more	GUncertain significance
Select item 2720431	NM_017721.5(CC2D1A):c.21C>T (p.Pro7=)	CC2D1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1307328	NM_017721.5(CC2D1A):c.23C>T (p.Pro8Leu)	CC2D1A (P8L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1792219	NM_017721.5(CC2D1A):c.24G>A (p.Pro8=)	CC2D1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3713252	NM_017721.5(CC2D1A):c.37A>C (p.Arg13=)	CC2D1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3827971	NM_017721.5(CC2D1A):c.43G>A (p.Ala15Thr)	CC2D1A (A15T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2750986	NM_017721.5(CC2D1A):c.49_60+23del	CC2D1A, LOC130063746	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2896714	NM_017721.5(CC2D1A):c.51C>T (p.Ala17=)	CC2D1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 985969	NM_017721.5(CC2D1A):c.55C>T (p.Arg19Cys)	CC2D1A (R19C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 434593	NM_017721.5(CC2D1A):c.60+10C>A	CC2D1A	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2829068	NM_017721.5(CC2D1A):c.60+11G>A	CC2D1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2758696	NM_017721.5(CC2D1A):c.60+12C>T	CC2D1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825294	NM_017721.5(CC2D1A):c.60+13C>T	CC2D1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2706868	NM_017721.5(CC2D1A):c.60+14C>T	CC2D1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816293	NM_017721.5(CC2D1A):c.61-10G>A	CC2D1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2771250	NM_017721.5(CC2D1A):c.61-5C>T	CC2D1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1751762	NM_017721.5(CC2D1A):c.61-2A>G	CC2D1A	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GLikely pathogenic
Select item 2548901	NM_017721.5(CC2D1A):c.65G>A (p.Gly22Asp)	CC2D1A (G22D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2917602	NM_017721.5(CC2D1A):c.66C>T (p.Gly22=)	CC2D1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908625	NM_017721.5(CC2D1A):c.81C>T (p.Leu27=)	CC2D1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015594	NM_017721.5(CC2D1A):c.93C>T (p.Gly31=)	CC2D1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2264540	NM_017721.5(CC2D1A):c.97A>T (p.Met33Leu)	CC2D1A (M33L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2716566	NM_017721.5(CC2D1A):c.120C>T (p.Asn40=)	CC2D1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3138116	NM_017721.5(CC2D1A):c.121G>A (p.Asp41Asn)	CC2D1A (D41N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2439780	NM_017721.5(CC2D1A):c.123T>A (p.Asp41Glu)	CC2D1A (D41E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 3	GUncertain significance
Select item 2714061	NM_017721.5(CC2D1A):c.126A>G (p.Glu42=)	CC2D1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2232287	NM_017721.5(CC2D1A):c.137C>T (p.Ala46Val)	CC2D1A (A46V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3390544	NM_017721.5(CC2D1A):c.139G>A (p.Glu47Lys)	CC2D1A (E47K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 718374	NM_017721.5(CC2D1A):c.147G>A (p.Leu49=)	CC2D1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 589401	NM_017721.5(CC2D1A):c.148G>T (p.Ala50Ser)	CC2D1A (A50S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2818699	NM_017721.5(CC2D1A):c.156C>A (p.Val52=)	CC2D1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737346	NM_017721.5(CC2D1A):c.156C>T (p.Val52=)	CC2D1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3138119	NM_017721.5(CC2D1A):c.158G>A (p.Gly53Glu)	CC2D1A (G53E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2747167	NM_017721.5(CC2D1A):c.163C>T (p.Gln55Ter)	CC2D1A (Q55*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 735582	NM_017721.5(CC2D1A):c.168C>T (p.Pro56=)	CC2D1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2820289	NM_017721.5(CC2D1A):c.179_180insCA (p.Glu60fs)	CC2D1A (E60fs)	Insertion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2748886	NM_017721.5(CC2D1A):c.186C>G (p.Leu62=)	CC2D1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708267	NM_017721.5(CC2D1A):c.189A>G (p.Lys63=)	CC2D1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2344356	NM_017721.5(CC2D1A):c.190G>C (p.Gly64Arg)	CC2D1A (G64R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2749020	NM_017721.5(CC2D1A):c.196+1G>A	CC2D1A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3638955	NM_017721.5(CC2D1A):c.196+19C>T	CC2D1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835859	NM_017721.5(CC2D1A):c.196+20C>T	CC2D1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2829735	NM_017721.5(CC2D1A):c.197-15T>A	CC2D1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2834131	NM_017721.5(CC2D1A):c.197-12C>T	CC2D1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 752082	NM_017721.5(CC2D1A):c.197-5G>A	CC2D1A	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3647613	NM_017721.5(CC2D1A):c.201C>T (p.Pro67=)	CC2D1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2555122	NM_017721.5(CC2D1A):c.205C>T (p.Pro69Ser)	CC2D1A (P69S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2892053	NM_017721.5(CC2D1A):c.207G>A (p.Pro69=)	CC2D1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3138122	NM_017721.5(CC2D1A):c.241A>G (p.Met81Val)	CC2D1A (M81V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 210602	NM_017721.5(CC2D1A):c.250C>T (p.Pro84Ser)	CC2D1A (P84S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3485757	NM_017721.5(CC2D1A):c.251C>T (p.Pro84Leu)	CC2D1A (P84L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 128620	NM_017721.5(CC2D1A):c.252G>A (p.Pro84=)	CC2D1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign
Select item 2843132	NM_017721.5(CC2D1A):c.267G>A (p.Glu89=)	CC2D1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3691070	NM_017721.5(CC2D1A):c.270G>A (p.Glu90=)	CC2D1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3485755	NM_017721.5(CC2D1A):c.275C>T (p.Thr92Met)	CC2D1A (T92M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3631532	NM_017721.5(CC2D1A):c.276G>A (p.Thr92=)	CC2D1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735933	NM_017721.5(CC2D1A):c.285C>G (p.Asp95Glu)	CC2D1A (D95E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2850072	NM_017721.5(CC2D1A):c.309G>C (p.Leu103=)	CC2D1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817927	NM_017721.5(CC2D1A):c.312+12G>A	CC2D1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2821902	NM_017721.5(CC2D1A):c.312+15C>T	CC2D1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819639	NM_017721.5(CC2D1A):c.312+18G>A	CC2D1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840214	NM_017721.5(CC2D1A):c.312+19G>A	CC2D1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2755864	NM_017721.5(CC2D1A):c.313-20C>T	CC2D1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 727149	NM_017721.5(CC2D1A):c.313-9T>C	CC2D1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898451	NM_017721.5(CC2D1A):c.313-5T>G	CC2D1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 733400	NM_017721.5(CC2D1A):c.313-4G>A	CC2D1A	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2714274	NM_017721.5(CC2D1A):c.313-1G>A	CC2D1A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2856036	NM_017721.5(CC2D1A):c.316dup (p.Glu106fs)	CC2D1A (E106fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 434594	NM_017721.5(CC2D1A):c.314C>T (p.Ala105Val)	CC2D1A (A105V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 589072	NM_017721.5(CC2D1A):c.315G>A (p.Ala105=)	CC2D1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2698708	NM_017721.5(CC2D1A):c.324T>C (p.Asn108=)	CC2D1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 634614	NM_017721.5(CC2D1A):c.325G>A (p.Glu109Lys)	CC2D1A (E109K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 3	GUncertain significance
Select item 587888	NM_017721.5(CC2D1A):c.332T>C (p.Leu111Pro)	CC2D1A (L111P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2821156	NM_017721.5(CC2D1A):c.339G>A (p.Glu113=)	CC2D1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2752600	NM_017721.5(CC2D1A):c.343C>A (p.Gln115Lys)	CC2D1A (Q115K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2736827	NM_017721.5(CC2D1A):c.347del (p.Lys116fs)	CC2D1A (K116fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2772300	NM_017721.5(CC2D1A):c.362dup (p.Pro122fs)	CC2D1A (P122fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2894373	NM_017721.5(CC2D1A):c.366T>C (p.Pro122=)	CC2D1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3625556	NM_017721.5(CC2D1A):c.378+9T>G	CC2D1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3690643	NM_017721.5(CC2D1A):c.378+17T>C	CC2D1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 812928	NM_017721.5(CC2D1A):c.378+137_1641+1157del	CC2D1A, LOC129391070	Deletion (splice acceptor variant +1 more)	Global developmental delay +2 more	GLikely pathogenic
Select item 2832307	NM_017721.5(CC2D1A):c.379-18G>A	CC2D1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2815022	NM_017721.5(CC2D1A):c.379-17C>A	CC2D1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3693433	NM_017721.5(CC2D1A):c.379-13del	CC2D1A	Deletion (intron variant)	not provided	GLikely benign
Select item 3138131	NM_017721.5(CC2D1A):c.379C>T (p.Pro127Ser)	CC2D1A (P127S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 587922	NM_017721.5(CC2D1A):c.380C>T (p.Pro127Leu)	CC2D1A (P127L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1735248	NM_017721.5(CC2D1A):c.381G>A (p.Pro127=)	CC2D1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2485901	NM_017721.5(CC2D1A):c.397C>T (p.His133Tyr)	CC2D1A (H133Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3711832	NM_017721.5(CC2D1A):c.402G>A (p.Pro134=)	CC2D1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3263708	NM_017721.5(CC2D1A):c.429G>T (p.Arg143Ser)	CC2D1A (R143S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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