ClinVar for Gene (Select 11245) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282323	NM_007223.3(GPR176):c.82C>G (p.Arg28Gly)	GPR176 (R28G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282322	NM_007223.3(GPR176):c.1343A>G (p.Lys448Arg)	GPR176 (K403R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282321	NM_007223.3(GPR176):c.39C>G (p.Ser13Arg)	GPR176 (S13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243876	NC_000015.9:g.(?_38545387)_(40293445_?)dup	EIF2AK4, FAM98B +7 more	Duplication	not provided	GUncertain significance
Select item 3243779	NC_000015.9:g.(?_38545387)_(42105565_?)dup	ANKRD63, BAHD1 +49 more	Duplication	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 3101620	NM_007223.3(GPR176):c.1433C>G (p.Pro478Arg)	GPR176 (P433R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101619	NM_007223.3(GPR176):c.1252T>C (p.Phe418Leu)	GPR176 (F418L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2622394	NM_007223.3(GPR176):c.1488G>C (p.Arg496Ser)	GPR176 (R451S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612699	NM_007223.3(GPR176):c.961C>G (p.Leu321Val)	GPR176 (L276V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608735	NM_007223.3(GPR176):c.125A>T (p.Gln42Leu)	GPR176 (Q42L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600100	NM_007223.3(GPR176):c.28C>T (p.Pro10Ser)	GPR176 (P10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596609	NM_007223.3(GPR176):c.1430C>T (p.Pro477Leu)	GPR176 (P477L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592436	NM_007223.3(GPR176):c.659T>C (p.Val220Ala)	GPR176 (V220A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542774	NM_007223.3(GPR176):c.698G>C (p.Ser233Thr)	GPR176 (S188T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542009	NM_007223.3(GPR176):c.725T>C (p.Ile242Thr)	GPR176 (I242T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527082	NM_007223.3(GPR176):c.853C>A (p.Leu285Met)	GPR176 (L240M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520264	NM_007223.3(GPR176):c.1495C>T (p.Arg499Trp)	GPR176 (R498W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508181	NM_007223.3(GPR176):c.1022G>A (p.Arg341Gln)	GPR176 (R341Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493262	NM_007223.3(GPR176):c.1151C>T (p.Thr384Ile)	GPR176 (T383I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401095	NM_007223.3(GPR176):c.181A>T (p.Met61Leu)	GPR176 (M16L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397901	NM_007223.3(GPR176):c.1013T>C (p.Leu338Pro)	GPR176 (L293P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388368	NM_007223.3(GPR176):c.646G>A (p.Val216Met)	GPR176 (V171M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370114	NM_007223.3(GPR176):c.620T>C (p.Leu207Pro)	GPR176 (L162P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368622	NM_007223.3(GPR176):c.202C>T (p.Arg68Cys)	GPR176 (R23C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335856	NM_007223.3(GPR176):c.542C>G (p.Thr181Ser)	GPR176 (T180S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303858	NM_007223.3(GPR176):c.26C>T (p.Ser9Phe)	GPR176 (S9F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302360	NM_007223.3(GPR176):c.1114A>G (p.Met372Val)	GPR176 (M371V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290019	NM_007223.3(GPR176):c.1429C>T (p.Pro477Ser)	GPR176 (P477S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267884	NM_007223.3(GPR176):c.796G>A (p.Ala266Thr)	GPR176 (A266T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263080	NM_007223.3(GPR176):c.976T>G (p.Ser326Ala)	GPR176 (S281A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250183	NM_007223.3(GPR176):c.1503G>A (p.Met501Ile)	GPR176 (M456I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238265	NM_007223.3(GPR176):c.795C>G (p.His265Gln)	GPR176 (H220Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219853	NM_007223.3(GPR176):c.1307C>T (p.Pro436Leu)	GPR176 (P391L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216707	NM_007223.3(GPR176):c.638C>T (p.Thr213Met)	GPR176 (T168M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213877	NM_007223.3(GPR176):c.545A>G (p.Asn182Ser)	GPR176 (N182S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526444	GRCh37/hg19 15q15.1(chr15:40132892-40511958)	BMF, BUB1B +4 more	Copy number gain	not specified	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	B2M, CTXN2 +472 more	Duplication	Bloom syndrome +1 more	GUncertain significance
Select item 585332	GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant	CCDC32, RTF1 +60 more	Complex	Spindle cell sarcoma	GPathogenic
Select item 564194	GRCh37/hg19 15q14-15.1(chr15:38170429-40775075)x1	THBS1, EIF2AK4 +22 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 221498	GRCh37/hg19 15q14-15.1(chr15:39874092-40492503)x3	BUB1B, EIF2AK4 +5 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 58352	GRCh38/hg38 15q14-15.1(chr15:39710935-40294591)x3	ANKRD63, BMF +47 more	Copy number gain	See cases	GUncertain significance
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 47