GPR108[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 150491	GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3	ACER1, ACSBG2 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2479306	NM_001080452.2(GPR108):c.1618C>T (p.Arg540Trp)	GPR108 (A283V +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3101377	NM_001080452.2(GPR108):c.1601A>G (p.Asn534Ser)	GPR108 (N292S +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2249172	NM_001080452.2(GPR108):c.1597G>C (p.Val533Leu)	GPR108 (V272L +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2464001	NM_001080452.2(GPR108):c.1579C>T (p.Arg527Trp)	GPR108 (P270L +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2489979	NM_001080452.2(GPR108):c.1558G>A (p.Val520Ile)	GPR108 (V259I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545137	NM_001080452.2(GPR108):c.1533C>A (p.Asp511Glu)	GPR108 (D250E +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378492	NM_001080452.2(GPR108):c.1508C>T (p.Pro503Leu)	GPR108 (P486L +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340722	NM_001080452.2(GPR108):c.1475C>T (p.Thr492Met)	GPR108 (R261W +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3282191	NM_001080452.2(GPR108):c.1460C>T (p.Ala487Val)	GPR108 (A245V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2393237	NM_001080452.2(GPR108):c.1334G>A (p.Arg445Gln)	GPR108 (R203Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299814	NM_001080452.2(GPR108):c.1223T>C (p.Ile408Thr)	GPR108 (I166T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353757	NM_001080452.2(GPR108):c.1186G>A (p.Val396Met)	GPR108 (V379M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101376	NM_001080452.2(GPR108):c.1174G>A (p.Ala392Thr)	GPR108 (A150T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371651	NM_001080452.2(GPR108):c.1163G>A (p.Arg388His)	GPR108 (R371H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101375	NM_001080452.2(GPR108):c.1099G>A (p.Val367Ile)	GPR108 (V125I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2570088	NM_001080452.2(GPR108):c.1075G>A (p.Val359Ile)	GPR108 (V359I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407835	NM_001080452.2(GPR108):c.1021C>T (p.Leu341Phe)	GPR108 (L99F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366300	NM_001080452.2(GPR108):c.1003C>T (p.His335Tyr)	GPR108 (H335Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518686	NM_001080452.2(GPR108):c.1000G>A (p.Ala334Thr)	GPR108 (A317T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3282189	NM_001080452.2(GPR108):c.985G>A (p.Val329Ile)	GPR108 (V312I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2274655	NM_001080452.2(GPR108):c.944A>G (p.Tyr315Cys)	GPR108 (Y298C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475310	NM_001080452.2(GPR108):c.886A>G (p.Met296Val)	GPR108 (M279V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357655	NM_001080452.2(GPR108):c.882G>T (p.Trp294Cys)	GPR108 (W277C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617370	NM_001080452.2(GPR108):c.864C>G (p.Ser288Arg)	GPR108 (S288R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398574	NM_001080452.2(GPR108):c.820G>A (p.Ala274Thr)	GPR108 (A32T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286441	NM_001080452.2(GPR108):c.793A>G (p.Met265Val)	GPR108 (M23V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101383	NM_001080452.2(GPR108):c.691G>T (p.Val231Leu)	GPR108 (V214L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398590	NM_001080452.2(GPR108):c.644C>T (p.Ala215Val)	GPR108 (A215V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101382	NM_001080452.2(GPR108):c.629T>A (p.Val210Glu)	GPR108 (V210E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101381	NM_001080452.2(GPR108):c.617G>A (p.Ser206Asn)	GPR108 (S189N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558899	NM_001080452.2(GPR108):c.604T>C (p.Ser202Pro)	GPR108 (S185P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228610	NM_001080452.2(GPR108):c.567C>G (p.Asp189Glu)	GPR108 (D172E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357472	NM_001080452.2(GPR108):c.515C>T (p.Ala172Val)	GPR108 (A172V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398763	NM_001080452.2(GPR108):c.485G>A (p.Arg162His)	GPR108 (R145H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241006	NM_001080452.2(GPR108):c.478G>A (p.Val160Ile)	GPR108 (V143I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101379	NM_001080452.2(GPR108):c.454G>A (p.Gly152Arg)	GPR108 (G152R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492189	NM_001080452.2(GPR108):c.418T>C (p.Phe140Leu)	GPR108 (F123L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237208	NM_001080452.2(GPR108):c.407C>T (p.Thr136Met)	GPR108 (T136M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255702	NM_001080452.2(GPR108):c.314C>G (p.Pro105Arg)	GPR108 (P105R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2557335	NM_001080452.2(GPR108):c.289T>G (p.Ser97Ala)	GPR108 (S97A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2396875	NM_001080452.2(GPR108):c.266G>A (p.Arg89Gln)	GPR108 (R89Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2274838	NM_001080452.2(GPR108):c.185T>C (p.Val62Ala)	GPR108 (V62A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101378	NM_001080452.2(GPR108):c.172G>A (p.Gly58Ser)	GPR108 (G58S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282190	NM_001080452.2(GPR108):c.124G>A (p.Glu42Lys)	GPR108 (E42K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215769	NM_001080452.2(GPR108):c.112G>A (p.Ala38Thr)	GPR108 (A38T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2552347	NM_001080452.2(GPR108):c.50G>T (p.Trp17Leu)	GPR108, LOC130063332 (W17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	CRB3, CTXN1 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 816063	GRCh37/hg19 19p13.3(chr19:6246138-6823741)x3	TNFSF14, SH2D3A +18 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 56