9153[Gene ID] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150128	GRCh38/hg38 15q21.1(chr15:44765914-45476854)x3	AFG2B, C15orf48 +42 more	Copy number gain	See cases	GUncertain significance
Select item 584325	NC_000015.9:g.(?_45152372)_(45670671_?)dup	SLC28A2, SLC28A2-AS1 +26 more	Duplication	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 155188	GRCh38/hg38 15q21.1(chr15:45026980-45579878)x3	LOC130057000, LOC130057001 +40 more	Copy number gain	See cases	GUncertain significance
Select item 155435	GRCh38/hg38 15q21.1(chr15:45032714-45592481)x3	AFG2B, BLOC1S6 +42 more	Copy number gain	See cases	GUncertain significance
Select item 2499649	GRCh38/hg38 15q21.1(chr15:45092835-45433283)	DUOXA1, DUOXA2 +31 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2365238	NM_004212.4(SLC28A2):c.38C>G (p.Ser13Cys)	SLC28A2, SLC28A2-AS1 (S13C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517142	NM_004212.4(SLC28A2):c.40A>G (p.Thr14Ala)	SLC28A2, SLC28A2-AS1 (T14A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1269551	NM_004212.4(SLC28A2):c.65C>T (p.Pro22Leu)	SLC28A2, SLC28A2-AS1 (P22L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2540270	NM_004212.4(SLC28A2):c.77T>C (p.Leu26Pro)	SLC28A2, SLC28A2-AS1 (L26P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391152	NM_004212.4(SLC28A2):c.126A>C (p.Gln42His)	SLC28A2, SLC28A2-AS1 (Q42H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617772	NM_004212.4(SLC28A2):c.127G>C (p.Gly43Arg)	SLC28A2, SLC28A2-AS1 (G43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347299	NM_004212.4(SLC28A2):c.167A>G (p.Gln56Arg)	SLC28A2, SLC28A2-AS1 (Q56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485363	NM_004212.4(SLC28A2):c.214A>G (p.Thr72Ala)	SLC28A2, SLC28A2-AS1 (T72A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1267759	NM_004212.4(SLC28A2):c.225C>A (p.Ser75Arg)	SLC28A2, SLC28A2-AS1 (S75R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3164031	NM_004212.4(SLC28A2):c.272C>T (p.Ala91Val)	SLC28A2, SLC28A2-AS1 (A91V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553621	NM_004212.4(SLC28A2):c.323T>C (p.Phe108Ser)	SLC28A2, SLC28A2-AS1 (F108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253948	NM_004212.4(SLC28A2):c.434T>C (p.Leu145Pro)	SLC28A2, SLC28A2-AS1 (L145P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164032	NM_004212.4(SLC28A2):c.551T>A (p.Ile184Asn)	SLC28A2, SLC28A2-AS1 (I184N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164033	NM_004212.4(SLC28A2):c.582C>A (p.His194Gln)	SLC28A2, SLC28A2-AS1 (H194Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519836	NM_004212.4(SLC28A2):c.614G>A (p.Gly205Asp)	SLC28A2, SLC28A2-AS1 (G205D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379908	NM_004212.4(SLC28A2):c.727G>A (p.Gly243Ser)	SLC28A2, SLC28A2-AS1 (G243S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492333	NM_004212.4(SLC28A2):c.757G>A (p.Val253Ile)	SLC28A2, SLC28A2-AS1 (V253I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620480	NM_004212.4(SLC28A2):c.809G>A (p.Cys270Tyr)	SLC28A2, SLC28A2-AS1 (C270Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164034	NM_004212.4(SLC28A2):c.850G>A (p.Val284Ile)	SLC28A2, SLC28A2-AS1 (V284I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164035	NM_004212.4(SLC28A2):c.934G>C (p.Val312Leu)	SLC28A2, SLC28A2-AS1 (V312L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620614	NM_004212.4(SLC28A2):c.934G>T (p.Val312Leu)	SLC28A2, SLC28A2-AS1 (V312L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164021	NM_004212.4(SLC28A2):c.1004C>T (p.Ala335Val)	SLC28A2, SLC28A2-AS1 (A335V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259028	NM_004212.4(SLC28A2):c.1019G>C (p.Gly340Ala)	SLC28A2, SLC28A2-AS1 (G340A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481143	NM_004212.4(SLC28A2):c.1097C>T (p.Ser366Phe)	SLC28A2, SLC28A2-AS1 (S366F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324057	NM_004212.4(SLC28A2):c.1102A>G (p.Met368Val)	SLC28A2, SLC28A2-AS1 (M368V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350173	NM_004212.4(SLC28A2):c.1145C>T (p.Pro382Leu)	SLC28A2, SLC28A2-AS1 (P382L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206068	NM_004212.4(SLC28A2):c.1180G>A (p.Gly394Arg)	SLC28A2, SLC28A2-AS1 (G394R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164023	NM_004212.4(SLC28A2):c.1234G>A (p.Gly412Arg)	SLC28A2, SLC28A2-AS1 (G412R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484789	NM_004212.4(SLC28A2):c.1319C>G (p.Ala440Gly)	SLC28A2, SLC28A2-AS1 (A440G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409083	NM_004212.4(SLC28A2):c.1366C>G (p.Gln456Glu)	SLC28A2, SLC28A2-AS1 (Q456E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164024	NM_004212.4(SLC28A2):c.1435A>G (p.Met479Val)	SLC28A2, SLC28A2-AS1 (M479V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164025	NM_004212.4(SLC28A2):c.1516C>T (p.Arg506Cys)	SLC28A2, SLC28A2-AS1 (R506C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164026	NM_004212.4(SLC28A2):c.1530G>T (p.Met510Ile)	SLC28A2, SLC28A2-AS1 (M510I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164027	NM_004212.4(SLC28A2):c.1618A>G (p.Ser540Gly)	SLC28A2, SLC28A2-AS1 (S540G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164028	NM_004212.4(SLC28A2):c.1646T>C (p.Leu549Ser)	SLC28A2, SLC28A2-AS1 (L549S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525257	NM_004212.4(SLC28A2):c.1729A>G (p.Ile577Val)	SLC28A2, SLC28A2-AS1 (I577V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260687	NM_004212.4(SLC28A2):c.1795C>T (p.Pro599Ser)	SLC28A2, SLC28A2-AS1 (P599S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331858	NM_004212.4(SLC28A2):c.1879A>G (p.Asn627Asp)	SLC28A2, SLC28A2-AS1 (N627D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164029	NM_004212.4(SLC28A2):c.1927A>T (p.Met643Leu)	SLC28A2, SLC28A2-AS1 (M643L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490203	NM_004212.4(SLC28A2):c.1931C>A (p.Ala644Asp)	SLC28A2, SLC28A2-AS1 (A644D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164030	NM_004212.4(SLC28A2):c.1948G>A (p.Gly650Arg)	SLC28A2, SLC28A2-AS1 (G650R)	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 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2424189	NC_000015.9:g.(?_45152372)_(45670651_?)dup	DUOX1, DUOX2 +7 more	Duplication	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 1526450	GRCh37/hg19 15q21.1(chr15:45056077-45772114)	C15orf48, DUOX1 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ARPIN-AP3S2, COMMD4 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 1007236	NC_000015.9:g.(?_44855319)_(45898712_?)dup	B2M, BLOC1S6 +15 more	Duplication	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 980034	GRCh37/hg19 15q21.1(chr15:45056077-45772378)x3	SORD, TERB2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 685684	GRCh37/hg19 15q21.1(chr15:45063803-45772378)x3	C15orf48, DUOX1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 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)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442681	GRCh37/hg19 15q21.1(chr15:45056077-45772114)x3	AFG2B, C15orf48 +10 more	Copy number gain	See cases	GUncertain significance
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 253933	GRCh37/hg19 15q21.1(chr15:45059827-45725363)x3	C15orf48, TERB2 +10 more	Copy number gain	See cases	GUncertain significance
Select item 253923	GRCh37/hg19 15q15.3-21.1(chr15:44484701-47475522)x1	DUOXA2, SHF +20 more	Copy number loss	See cases	GUncertain significance

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Items: 65