GPRC5B[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 2603803	NM_016235.3(GPRC5B):c.1193C>T (p.Thr398Ile)	GPRC5B (T529I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769895	NM_016235.3(GPRC5B):c.1149C>T (p.Val383=)	GPRC5B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 741440	NM_016235.3(GPRC5B):c.1104C>T (p.Ser368=)	GPRC5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2228843	NM_016235.3(GPRC5B):c.1100C>T (p.Pro367Leu)	GPRC5B (P367L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282486	NM_016235.3(GPRC5B):c.1078A>C (p.Ser360Arg)	GPRC5B (S491R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311155	NM_016235.3(GPRC5B):c.983G>A (p.Arg328Gln)	GPRC5B (R328Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101962	NM_016235.3(GPRC5B):c.961G>A (p.Glu321Lys)	GPRC5B (E321K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389347	NM_016235.3(GPRC5B):c.932C>T (p.Ser311Leu)	GPRC5B (S311L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313491	NM_016235.3(GPRC5B):c.919T>A (p.Tyr307Asn)	GPRC5B (Y438N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101960	NM_016235.3(GPRC5B):c.862G>A (p.Ala288Thr)	GPRC5B (A288T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344554	NM_016235.3(GPRC5B):c.850G>A (p.Val284Ile)	GPRC5B (V284I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380750	NM_016235.3(GPRC5B):c.787C>A (p.Gln263Lys)	GPRC5B (Q394K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101959	NM_016235.3(GPRC5B):c.755C>T (p.Thr252Ile)	GPRC5B (T383I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348605	NM_016235.3(GPRC5B):c.670G>A (p.Gly224Ser)	GPRC5B (G224S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612632	NM_016235.3(GPRC5B):c.661A>C (p.Thr221Pro)	GPRC5B (T352P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282488	NM_016235.3(GPRC5B):c.613A>G (p.Ile205Val)	GPRC5B (I205V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2573134	NM_016235.3(GPRC5B):c.528_530dup (p.Ala177_Val178insAla)	GPRC5B	Duplication (inframe_insertion)	Megalencephalic leukoencephalopathy with subcortical cysts 3	GPathogenic
Select item 2573133	NM_016235.3(GPRC5B):c.523ATC[3] (p.Ile176_Ala177insIle)	GPRC5B	Microsatellite (inframe_insertion)	Megalencephalic leukoencephalopathy with subcortical cysts 3	GPathogenic
Select item 2386207	NM_016235.3(GPRC5B):c.455G>A (p.Arg152Gln)	GPRC5B (R283Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383914	NM_016235.3(GPRC5B):c.442C>T (p.Arg148Trp)	GPRC5B (R279W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718205	NM_016235.3(GPRC5B):c.439G>A (p.Val147Met)	GPRC5B (V147M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3282489	NM_016235.3(GPRC5B):c.332T>C (p.Phe111Ser)	GPRC5B (F242S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605681	NM_016235.3(GPRC5B):c.208A>T (p.Thr70Ser)	GPRC5B (T201S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710821	NM_016235.3(GPRC5B):c.177G>A (p.Val59=)	GPRC5B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3101956	NM_016235.3(GPRC5B):c.136G>A (p.Val46Met)	GPRC5B (V177M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101961	NM_016235.3(GPRC5B):c.91G>A (p.Ala31Thr)	GPRC5B (A162T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282487	NM_016235.3(GPRC5B):c.58C>G (p.Leu20Val)	GPRC5B (L151V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229276	NM_016235.3(GPRC5B):c.38A>G (p.Gln13Arg)	GPRC5B (Q13R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768760	NM_001304771.1(GPRC5B):c.59A>T (p.Asp20Val)	GPRC5B (D20V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 395601	GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	ACSM1, ACSM2A +119 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221513	GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3	ACSM1, ACSM2A +95 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 45