SLC30A4[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2244168	NM_013309.6(SLC30A4):c.1220C>G (p.Thr407Ser)	SLC30A4, SLC30A4-AS1 (T407S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319511	NM_013309.6(SLC30A4):c.1211A>T (p.Tyr404Phe)	SLC30A4, SLC30A4-AS1 (Y404F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341631	NM_013309.6(SLC30A4):c.1202T>A (p.Phe401Tyr)	SLC30A4, SLC30A4-AS1 (F401Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288501	NM_013309.6(SLC30A4):c.1182C>A (p.Asn394Lys)	SLC30A4, SLC30A4-AS1 (N394K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393020	NM_013309.6(SLC30A4):c.985G>A (p.Val329Ile)	SLC30A4, SLC30A4-AS1 (V329I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491884	NM_013309.6(SLC30A4):c.775G>A (p.Gly259Arg)	SLC30A4, SLC30A4-AS1 (G259R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272913	NM_013309.6(SLC30A4):c.770G>T (p.Gly257Val)	SLC30A4, SLC30A4-AS1 (G257V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484538	NM_013309.6(SLC30A4):c.754A>C (p.Asn252His)	SLC30A4, SLC30A4-AS1 (N252H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523400	NM_013309.6(SLC30A4):c.724C>T (p.Arg242Cys)	SLC30A4, SLC30A4-AS1 (R242C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219770	NM_013309.6(SLC30A4):c.719G>T (p.Gly240Val)	SLC30A4, SLC30A4-AS1 (G240V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319510	NM_013309.6(SLC30A4):c.620T>C (p.Ile207Thr)	SLC30A4, SLC30A4-AS1 (I207T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525130	NM_013309.6(SLC30A4):c.608T>C (p.Val203Ala)	SLC30A4, SLC30A4-AS1 (V203A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246158	NM_013309.6(SLC30A4):c.598T>A (p.Tyr200Asn)	SLC30A4, SLC30A4-AS1 (Y200N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164241	NM_013309.6(SLC30A4):c.310A>T (p.Ile104Leu)	SLC30A4 (I104L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3164240	NM_013309.6(SLC30A4):c.293G>A (p.Cys98Tyr)	SLC30A4 (C98Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570497	NM_013309.6(SLC30A4):c.290A>G (p.Asn97Ser)	SLC30A4 (N97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588763	NM_013309.6(SLC30A4):c.258T>G (p.Ser86Arg)	SLC30A4 (S86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164238	NM_013309.6(SLC30A4):c.257G>A (p.Ser86Asn)	SLC30A4 (S86N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164237	NM_013309.6(SLC30A4):c.235C>A (p.Gln79Lys)	SLC30A4 (Q79K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234015	NM_013309.6(SLC30A4):c.226T>A (p.Leu76Ile)	SLC30A4 (L76I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164236	NM_013309.6(SLC30A4):c.199C>T (p.Pro67Ser)	SLC30A4 (P67S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517606	NM_013309.6(SLC30A4):c.190G>C (p.Gly64Arg)	SLC30A4 (G64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319509	NM_013309.6(SLC30A4):c.64T>C (p.Phe22Leu)	SLC30A4 (F22L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269516	NM_013309.6(SLC30A4):c.49G>A (p.Asp17Asn)	SLC30A4 (D17N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613052	NM_013309.6(SLC30A4):c.38T>G (p.Met13Arg)	SLC30A4 (M13R)	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 2424188	NC_000015.9:g.(?_45656975)_(45884494_?)dup	AFG2B, BLOC1S6 +3 more	Duplication	Arginine:glycine amidinotransferase deficiency	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	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 1007236	NC_000015.9:g.(?_44855319)_(45898712_?)dup	AFG2B, DUOX2 +15 more	Duplication	Arginine:glycine amidinotransferase deficiency	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	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 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	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
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: 41