13900[HGNC] - ClinVar

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Items: 34

	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 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 2561263	NM_170693.3(SGK2):c.-23-150G>A	SGK2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2253389	NM_170693.3(SGK2):c.-23-139T>C	SGK2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3161024	NM_170693.3(SGK2):c.-23-97G>C	SGK2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2495122	NM_170693.3(SGK2):c.-23-94G>C	SGK2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3161025	NM_170693.3(SGK2):c.-23-73C>G	SGK2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2356402	NM_170693.3(SGK2):c.70C>A (p.Pro24Thr)	SGK2 (P24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399897	NM_170693.3(SGK2):c.83C>T (p.Pro28Leu)	SGK2 (P28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161019	NM_170693.3(SGK2):c.160C>T (p.Arg54Cys)	SGK2 (R54C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713737	NM_170693.3(SGK2):c.228+8A>T	SGK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3161020	NM_170693.3(SGK2):c.251G>A (p.Arg84His)	SGK2 (R84H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161021	NM_170693.3(SGK2):c.274C>T (p.Arg92Trp)	SGK2 (R92W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161022	NM_170693.3(SGK2):c.319G>A (p.Glu107Lys)	SGK2 (E107K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1183962	NM_170693.3(SGK2):c.380G>A (p.Arg127Gln)	SGK2 (R127Q)	Single nucleotide variant (missense variant)	Colorectal cancer	GLikely pathogenic
Select item 3161023	NM_170693.3(SGK2):c.404G>A (p.Arg135Gln)	SGK2 (R135Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774530	NM_170693.3(SGK2):c.510+7_510+8insGGGGTGTG	SGK2	Insertion (intron variant)	not provided	GLikely benign
Select item 2021029	NM_170693.3(SGK2):c.510+5GT[18]	SGK2	Microsatellite (intron variant)	not provided	GBenign
Select item 2008051	NM_170693.3(SGK2):c.510+5GT[16]	SGK2	Microsatellite (intron variant)	not provided	GBenign
Select item 769470	NM_170693.3(SGK2):c.510+5GT[17]	SGK2	Microsatellite (intron variant)	not provided	GBenign
Select item 2395069	NM_170693.3(SGK2):c.527C>T (p.Thr176Met)	SGK2 (T176M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238944	NM_170693.3(SGK2):c.616C>T (p.Leu206Phe)	SGK2 (L206F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364093	NM_170693.3(SGK2):c.647A>T (p.Asp216Val)	SGK2 (D216V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300927	NM_170693.3(SGK2):c.700T>C (p.Phe234Leu)	SGK2 (F234L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409245	NM_170693.3(SGK2):c.739C>A (p.Leu247Met)	SGK2 (L247M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294260	NM_170693.3(SGK2):c.749C>T (p.Pro250Leu)	SGK2 (P250L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522072	NM_170693.3(SGK2):c.856A>G (p.Ile286Val)	SGK2 (I286V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161017	NM_170693.3(SGK2):c.909G>C (p.Lys303Asn)	SGK2 (K303N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544422	NM_170693.3(SGK2):c.943G>A (p.Gly315Arg)	SGK2 (G315R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161018	NM_170693.3(SGK2):c.1007G>C (p.Gly336Ala)	SGK2 (G336A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 687561	GRCh37/hg19 20q13.11-13.12(chr20:42087848-42275167)x1	IFT52, L3MBTL1 +2 more	Copy number loss	not provided	GUncertain significance
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

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Items: 34