ClinVar for Gene (Select 51704) - ClinVar

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

Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 769895	NM_016235.3(GPRC5B):c.1149C>T (p.Val383=)	GPRC5B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768760	NM_001304771.1(GPRC5B):c.59A>T (p.Asp20Val)	GPRC5B (D20V)	Single nucleotide variant (missense 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 718205	NM_016235.3(GPRC5B):c.439G>A (p.Val147Met)	GPRC5B (V147M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710821	NM_016235.3(GPRC5B):c.177G>A (p.Val59=)	GPRC5B	Single nucleotide variant (synonymous variant)	not provided	GBenign
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
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

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: 45