GPRC5D-AS1[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 154815	GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1	APOLD1, ARHGDIB +238 more	Copy number loss	See cases	GLikely pathogenic
Select item 57166	GRCh38/hg38 12p13.2-13.1(chr12:11771233-13547775)x1	APOLD1, BCL2L14 +121 more	Copy number loss	See cases	GPathogenic
Select item 146005	GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1	APOLD1, ARHGDIB +137 more	Copy number loss	See cases	GPathogenic
Select item 58986	GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1	APOLD1, ARHGDIB +140 more	Copy number loss	See cases	GPathogenic
Select item 3101987	NM_018654.2(GPRC5D):c.959C>T (p.Pro320Leu)	GPRC5D, GPRC5D-AS1 (P320L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2231895	NM_018654.2(GPRC5D):c.880C>G (p.Gln294Glu)	GPRC5D, GPRC5D-AS1 (Q294E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355606	NM_018654.2(GPRC5D):c.819C>G (p.Cys273Trp)	GPRC5D, GPRC5D-AS1 (C273W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246125	NM_018654.2(GPRC5D):c.809G>A (p.Arg270Lys)	GPRC5D, GPRC5D-AS1 (R270K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2569958	NM_018654.2(GPRC5D):c.775G>A (p.Val259Ile)	GPRC5D, GPRC5D-AS1 (V259I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3282497	NM_018654.2(GPRC5D):c.751T>C (p.Trp251Arg)	GPRC5D, GPRC5D-AS1 (W251R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101986	NM_018654.2(GPRC5D):c.719C>T (p.Pro240Leu)	GPRC5D, GPRC5D-AS1 (P240L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101985	NM_018654.2(GPRC5D):c.708G>T (p.Gln236His)	GPRC5D, GPRC5D-AS1 (Q236H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101984	NM_018654.2(GPRC5D):c.684C>A (p.Asn228Lys)	GPRC5D, GPRC5D-AS1 (N228K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101983	NM_018654.2(GPRC5D):c.679G>A (p.Gly227Ser)	GPRC5D, GPRC5D-AS1 (G227S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614815	NM_018654.2(GPRC5D):c.665C>T (p.Ser222Phe)	GPRC5D, GPRC5D-AS1 (S222F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101981	NM_018654.2(GPRC5D):c.605A>G (p.His202Arg)	GPRC5D, GPRC5D-AS1 (H202R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342914	NM_018654.2(GPRC5D):c.581G>A (p.Gly194Asp)	GPRC5D, GPRC5D-AS1 (G194D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326097	NM_018654.2(GPRC5D):c.578G>A (p.Cys193Tyr)	GPRC5D, GPRC5D-AS1 (C193Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370466	NM_018654.2(GPRC5D):c.559G>A (p.Val187Ile)	GPRC5D, GPRC5D-AS1 (V187I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101980	NM_018654.2(GPRC5D):c.500A>G (p.Asn167Ser)	GPRC5D, GPRC5D-AS1 (N167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101979	NM_018654.2(GPRC5D):c.487C>T (p.Pro163Ser)	GPRC5D, GPRC5D-AS1 (P163S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368112	NM_018654.2(GPRC5D):c.468G>A (p.Met156Ile)	GPRC5D, GPRC5D-AS1 (M156I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101978	NM_018654.2(GPRC5D):c.438G>T (p.Glu146Asp)	GPRC5D, GPRC5D-AS1 (E146D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620265	NM_018654.2(GPRC5D):c.395T>C (p.Ile132Thr)	GPRC5D, GPRC5D-AS1 (I132T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282496	NM_018654.2(GPRC5D):c.337A>C (p.Asn113His)	GPRC5D, GPRC5D-AS1 (N113H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101977	NM_018654.2(GPRC5D):c.275G>A (p.Arg92His)	GPRC5D, GPRC5D-AS1 (R92H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238490	NM_018654.2(GPRC5D):c.271G>A (p.Val91Ile)	GPRC5D, GPRC5D-AS1 (V91I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590447	NM_018654.2(GPRC5D):c.229G>A (p.Ala77Thr)	GPRC5D, GPRC5D-AS1 (A77T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330143	NM_018654.2(GPRC5D):c.185C>T (p.Thr62Ile)	GPRC5D, GPRC5D-AS1 (T62I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282498	NM_018654.2(GPRC5D):c.146G>A (p.Arg49Gln)	GPRC5D, GPRC5D-AS1 (R49Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345151	NM_018654.2(GPRC5D):c.55G>A (p.Glu19Lys)	GPRC5D, GPRC5D-AS1 (E19K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546651	NM_015987.5(HEBP1):c.562A>C (p.Lys188Gln)	GPRC5D-AS1, HEBP1 (K188Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104902	NM_015987.5(HEBP1):c.499T>C (p.Phe167Leu)	GPRC5D-AS1, HEBP1 (F167L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349742	NM_015987.5(HEBP1):c.490G>A (p.Asp164Asn)	GPRC5D-AS1, HEBP1 (D164N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355035	NM_015987.5(HEBP1):c.449G>A (p.Arg150His)	GPRC5D-AS1, HEBP1 (R150H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590093	NM_015987.5(HEBP1):c.373C>T (p.Arg125Trp)	GPRC5D-AS1, HEBP1 (R125W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268510	NM_015987.5(HEBP1):c.365T>C (p.Ile122Thr)	GPRC5D-AS1, HEBP1 (I122T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298340	NM_015987.5(HEBP1):c.227T>A (p.Met76Lys)	GPRC5D-AS1, HEBP1 (M76K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263048	NM_015987.5(HEBP1):c.211G>T (p.Asp71Tyr)	GPRC5D-AS1, HEBP1 (D71Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104901	NM_015987.5(HEBP1):c.194A>G (p.Tyr65Cys)	GPRC5D-AS1, HEBP1 (Y65C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204794	NM_015987.5(HEBP1):c.188C>A (p.Ala63Glu)	GPRC5D-AS1, HEBP1 (A63E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104900	NM_015987.5(HEBP1):c.142G>C (p.Asp48His)	GPRC5D-AS1, HEBP1 (D48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104903	NM_015987.5(HEBP1):c.73G>A (p.Asp25Asn)	GPRC5D-AS1, HEBP1 (D25N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240713	NM_015987.5(HEBP1):c.59T>G (p.Val20Gly)	GPRC5D-AS1, HEBP1 (V20G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 54