ClinVar for Gene (Select 5999) - ClinVar

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

Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314127	NM_001102445.3(RGS4):c.127C>A (p.Arg43Ser)	RGS4 (R43S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314126	NM_005613.6(RGS4):c.220G>A (p.Ala74Thr)	RGS4 (A56T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314125	NM_001102445.3(RGS4):c.128G>T (p.Arg43Leu)	RGS4 (R43L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314124	NM_005613.6(RGS4):c.497G>A (p.Arg166His)	RGS4 (R263H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153914	NM_005613.6(RGS4):c.539C>G (p.Pro180Arg)	RGS4 (P180R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153913	NM_005613.6(RGS4):c.451G>A (p.Glu151Lys)	RGS4 (E133K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153911	NM_005613.6(RGS4):c.395G>A (p.Cys132Tyr)	RGS4 (C114Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153910	NM_005613.6(RGS4):c.-47C>T	RGS4 (S82F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589105	NM_005613.6(RGS4):c.539C>T (p.Pro180Leu)	RGS4 (P162L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558084	NM_005613.6(RGS4):c.338A>G (p.Lys113Arg)	RGS4 (K113R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459444	NM_005613.6(RGS4):c.-62G>T	RGS4 (R77L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407598	NM_001102445.3(RGS4):c.44G>A (p.Gly15Glu)	RGS4 (G15E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2395459	NM_001102445.3(RGS4):c.89C>T (p.Ala30Val)	RGS4 (A30V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353579	NM_005613.6(RGS4):c.232G>A (p.Ala78Thr)	RGS4 (A175T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350784	NM_001102445.3(RGS4):c.124G>T (p.Gly42Cys)	RGS4 (G42C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338099	NM_001102445.3(RGS4):c.61G>T (p.Ala21Ser)	RGS4 (A21S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309855	NM_005613.6(RGS4):c.523C>A (p.Leu175Ile)	RGS4 (L175I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303420	NM_005613.6(RGS4):c.89C>T (p.Ser30Phe)	RGS4 (S127F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246155	NM_005613.6(RGS4):c.400A>T (p.Arg134Trp)	RGS4 (R116W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220400	NM_001102445.3(RGS4):c.155C>A (p.Thr52Lys)	RGS4 (T52K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808712	GRCh37/hg19 1q23.3(chr1:161924068-164761399)x1	ATF6, C1orf226 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979301	GRCh37/hg19 1q23.3(chr1:162536242-163169281)x3	DDR2, CCDC190 +4 more	Copy number gain	not provided	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 60043	GRCh38/hg38 1q23.3-24.2(chr1:162040050-167480663)x1	LOC129931815, LOC129931816 +151 more	Copy number loss	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	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

Links from Gene

Items: 35