GPRC6A[gene] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 58441	GRCh38/hg38 6q22.1(chr6:115220054-117196371)x1	CALHM4, CALHM5 +64 more	Copy number loss	See cases	GPathogenic
Select item 146318	GRCh38/hg38 6q22.1-22.2(chr6:115326962-117935240)x1	CALHM4, CALHM5 +91 more	Copy number loss	See cases	GLikely pathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 148351	GRCh38/hg38 6q22.1(chr6:116617428-116979654)x1	FAM162B, GPRC6A +10 more	Copy number loss	See cases	GUncertain significance
Select item 2239764	NM_148963.4(GPRC6A):c.2657G>A (p.Ser886Asn)	GPRC6A (S815N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777626	NM_148963.4(GPRC6A):c.2654C>A (p.Ser885Tyr)	GPRC6A (S885Y +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2305102	NM_148963.4(GPRC6A):c.2579G>C (p.Ser860Thr)	GPRC6A (S789T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514959	NM_148963.4(GPRC6A):c.2553G>C (p.Lys851Asn)	GPRC6A (K780N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515177	NM_148963.4(GPRC6A):c.2528T>C (p.Ile843Thr)	GPRC6A (I668T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2214008	NM_148963.4(GPRC6A):c.2520G>C (p.Lys840Asn)	GPRC6A (K840N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483296	NM_148963.4(GPRC6A):c.2501G>T (p.Cys834Phe)	GPRC6A (C763F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101999	NM_148963.4(GPRC6A):c.2498A>G (p.Lys833Arg)	GPRC6A (K762R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362676	NM_148963.4(GPRC6A):c.2362A>C (p.Met788Leu)	GPRC6A (M788L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346774	NM_148963.4(GPRC6A):c.2345A>G (p.Lys782Arg)	GPRC6A (K607R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769689	NM_148963.4(GPRC6A):c.2324_2325insCC (p.Glu776fs)	GPRC6A (E705fs +2 more)	Insertion (frameshift variant)	not provided	GBenign
Select item 769690	NM_148963.4(GPRC6A):c.2323dup (p.Tyr775fs)	GPRC6A (Y600fs +2 more)	Duplication (frameshift variant)	not provided	GBenign
Select item 769691	NM_148963.4(GPRC6A):c.2320_2321insGGA (p.Gly773_Lys774insArg)	GPRC6A	Insertion (inframe_insertion)	not provided	GBenign
Select item 3101998	NM_148963.4(GPRC6A):c.2276T>C (p.Ile759Thr)	GPRC6A (I759T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569059	NM_148963.4(GPRC6A):c.2228A>G (p.Glu743Gly)	GPRC6A (E743G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101997	NM_148963.4(GPRC6A):c.2185A>G (p.Thr729Ala)	GPRC6A (T554A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3101996	NM_148963.4(GPRC6A):c.2162T>C (p.Leu721Pro)	GPRC6A (L650P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215659	NM_148963.4(GPRC6A):c.2135C>T (p.Thr712Met)	GPRC6A (T641M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101994	NM_148963.4(GPRC6A):c.2111C>T (p.Pro704Leu)	GPRC6A (P704L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101993	NM_148963.4(GPRC6A):c.2054T>G (p.Leu685Trp)	GPRC6A (L510W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656867	NM_148963.4(GPRC6A):c.2036C>T (p.Thr679Met)	GPRC6A (T504M +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2597115	NM_148963.4(GPRC6A):c.1991C>T (p.Thr664Ile)	GPRC6A (T489I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101992	NM_148963.4(GPRC6A):c.1916G>A (p.Cys639Tyr)	GPRC6A (C639Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370052	NM_148963.4(GPRC6A):c.1894G>C (p.Val632Leu)	GPRC6A (V457L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217678	NM_148963.4(GPRC6A):c.1882G>A (p.Gly628Arg)	GPRC6A (G557R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101991	NM_148963.4(GPRC6A):c.1835G>T (p.Gly612Val)	GPRC6A (G437V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549076	NM_148963.4(GPRC6A):c.1745A>T (p.Lys582Met)	GPRC6A (K407M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533458	NM_148963.4(GPRC6A):c.1700A>G (p.Asn567Ser)	GPRC6A (N567S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326925	NM_148963.4(GPRC6A):c.1692A>C (p.Leu564Phe)	GPRC6A (L389F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101990	NM_148963.4(GPRC6A):c.1593G>C (p.Met531Ile)	GPRC6A (M460I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210538	NM_148963.4(GPRC6A):c.1586G>A (p.Gly529Glu)	GPRC6A (G458E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352517	NM_148963.4(GPRC6A):c.1544T>C (p.Leu515Pro)	GPRC6A (L515P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282501	NM_148963.4(GPRC6A):c.1541A>G (p.Asn514Ser)	GPRC6A (N514S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101989	NM_148963.4(GPRC6A):c.1507A>G (p.Ile503Val)	GPRC6A (I328V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297711	NM_148963.4(GPRC6A):c.1505T>C (p.Ile502Thr)	GPRC6A (I502T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346663	NM_148963.4(GPRC6A):c.1298G>A (p.Arg433His)	GPRC6A (R433H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543255	NM_148963.4(GPRC6A):c.1277T>C (p.Ile426Thr)	GPRC6A (I426T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101988	NM_148963.4(GPRC6A):c.1163C>T (p.Ala388Val)	GPRC6A (A388V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282503	NM_148963.4(GPRC6A):c.1121A>C (p.Gln374Pro)	GPRC6A (Q374P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314561	NM_148963.4(GPRC6A):c.1030C>T (p.His344Tyr)	GPRC6A (H344Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656868	NM_148963.4(GPRC6A):c.945T>C (p.Pro315=)	GPRC6A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2297762	NM_148963.4(GPRC6A):c.934A>G (p.Thr312Ala)	GPRC6A (T312A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102006	NM_148963.4(GPRC6A):c.797T>C (p.Ile266Thr)	GPRC6A (I266T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296992	NM_148963.4(GPRC6A):c.763G>A (p.Glu255Lys)	GPRC6A (E255K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491843	NM_148963.4(GPRC6A):c.676A>G (p.Asn226Asp)	GPRC6A (N226D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511276	NM_148963.4(GPRC6A):c.670G>T (p.Ala224Ser)	GPRC6A (A224S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102005	NM_148963.4(GPRC6A):c.647C>G (p.Thr216Arg)	GPRC6A (T216R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102004	NM_148963.4(GPRC6A):c.630G>T (p.Trp210Cys)	GPRC6A (W210C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102003	NM_148963.4(GPRC6A):c.627C>G (p.Asn209Lys)	GPRC6A (N209K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356741	NM_148963.4(GPRC6A):c.584A>T (p.Gln195Leu)	GPRC6A (Q195L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207871	NM_148963.4(GPRC6A):c.542G>A (p.Arg181His)	GPRC6A (R181H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102000	NM_148963.4(GPRC6A):c.434G>A (p.Gly145Asp)	GPRC6A (G145D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1202594	NM_148963.4(GPRC6A):c.425C>T (p.Ala142Val)	GPRC6A (A142V)	Single nucleotide variant (missense variant)	Disorder of sexual differentiation	GUncertain significance
Select item 3282500	NM_148963.4(GPRC6A):c.380T>C (p.Val127Ala)	GPRC6A (V127A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282499	NM_148963.4(GPRC6A):c.377C>T (p.Thr126Ile)	GPRC6A (T126I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2538421	NM_148963.4(GPRC6A):c.350T>C (p.Leu117Pro)	GPRC6A (L117P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374458	NM_148963.4(GPRC6A):c.302A>G (p.Asp101Gly)	GPRC6A (D101G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151218	GRCh38/hg38 6q22.1-22.31(chr6:116815199-119718887)x1	ASF1A, CEP85L +68 more	Copy number loss	See cases	GLikely pathogenic
Select item 2519392	NM_148963.4(GPRC6A):c.170G>A (p.Arg57Gln)	GPRC6A (R57Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318807	NM_148963.4(GPRC6A):c.170G>C (p.Arg57Pro)	GPRC6A (R57P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532314	NM_148963.4(GPRC6A):c.71C>T (p.Pro24Leu)	GPRC6A (P24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102001	NM_148963.4(GPRC6A):c.46G>C (p.Ala16Pro)	GPRC6A (A16P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282502	NM_148963.4(GPRC6A):c.13A>G (p.Ile5Val)	GPRC6A (I5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2574685	GRCh37/hg19 6q21-22.31(chr6:112713854-124105184)	ASF1A, CALHM4 +39 more	Copy number loss	6q terminal deletion syndrome	GLikely pathogenic
Select item 2427242	NC_000006.11:g.(?_116441236)_(119252888_?)del	TRAPPC3L, TSPYL4 +24 more	Deletion	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 1527280	GRCh37/hg19 6q22.1(chr6:116944106-117228916)	FAM162B, GPRC6A +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527278	GRCh37/hg19 6q22.1-22.31(chr6:116212698-119482708)	DCBLD1, DSE +26 more	Copy number loss	not specified	GPathogenic
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	FBXL4, WASF1 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	CALHM4, PRDM13 +138 more	Copy number loss	not specified	GPathogenic
Select item 1409992	NC_000006.11:g.(?_116937787)_(117252669_?)dup	FAM162B, GPRC6A +4 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 980220	GRCh37/hg19 6q22.1(chr6:116978714-117537404)x1	RFX6, GPRC6A +3 more	Copy number loss	not provided	GUncertain significance
Select item 978186	NC_000006.11:g.116734559_123648104del	ASF1A, CALHM4 +31 more	Deletion	Seizure +1 more	GPathogenic
Select item 688010	GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1	AMD1, ASF1A +45 more	Copy number loss	not provided	GPathogenic
Select item 563222	GRCh37/hg19 6q21-22.1(chr6:113261042-117842826)x1	CALHM4, CALHM5 +21 more	Copy number loss	not provided	GPathogenic
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 217142	GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1	NT5DC1, TRAPPC3L +36 more	Copy number loss	6q21-6q22.1 deletion	GLikely pathogenic
Select item 180227	NC_000006.11:g.(116681080_116735056)_(119687719_119775014)del	ASF1A, CALHM4 +22 more	Deletion	Tremor +3 more	GPathogenic
Select item 180224	NC_000006.11:g.(112511751_112511752)_(118037595_118037596)del	KPNA5, LAMA4 +25 more	Deletion	Delayed speech and language development +2 more	GPathogenic

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Items: 93