ADIG[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 2378440	NM_001393816.1(ADIG):c.20C>T (p.Pro7Leu)	ADIG (P7L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340320	NM_001393816.1(ADIG):c.38C>A (p.Thr13Lys)	ADIG (T13K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089399	NM_001393816.1(ADIG):c.70C>T (p.Pro24Ser)	ADIG (P24S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241241	NM_001393816.1(ADIG):c.107G>A (p.Arg36His)	ADIG (R36H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089376	NM_001393816.1(ADIG):c.114A>T (p.Leu38Phe)	ADIG (L38F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525928	NM_001393816.1(ADIG):c.115C>T (p.Leu39Phe)	ADIG (L39F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089381	NM_001393816.1(ADIG):c.145A>C (p.Ser49Arg)	ADIG (S49R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089392	NM_001393816.1(ADIG):c.230G>A (p.Arg77Lys)	ADIG (R77K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2652320	NM_001393816.1(ADIG):c.*351A>G	ADIG	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3248361	NC_000020.10:g.(?_37060620)_(37581163_?)dup	PPP1R16B, ARHGAP40 +6 more	Duplication	not provided	GUncertain significance
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic