SGK2[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +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 3317932	NM_170693.3(SGK2):c.-23-144T>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 3317930	NM_170693.3(SGK2):c.52G>A (p.Gly18Arg)	SGK2 (G18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317929	NM_170693.3(SGK2):c.70C>T (p.Pro24Ser)	SGK2 (P24S)	Single nucleotide variant (missense variant)	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 3317931	NM_170693.3(SGK2):c.250C>T (p.Arg84Cys)	SGK2 (R84C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 38