7781[Gene ID] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	ABHD1, ADCY3 +321 more	Copy number loss	See cases	GPathogenic
Select item 58840	GRCh38/hg38 2p23.3(chr2:25759602-27297636)x3	ABHD1, ADGRF3 +99 more	Copy number gain	See cases	GUncertain significance
Select item 2323633	NM_003459.5(SLC30A3):c.1156C>T (p.Pro386Ser)	SLC30A3 (P381S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1342466	NM_003459.5(SLC30A3):c.1154C>G (p.Pro385Arg)	SLC30A3 (P372R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2329287	NM_003459.5(SLC30A3):c.1145G>A (p.Cys382Tyr)	SLC30A3 (C377Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380769	NM_003459.5(SLC30A3):c.1120C>T (p.Pro374Ser)	SLC30A3 (P361S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 723115	NM_003459.5(SLC30A3):c.1017C>A (p.Ile339=)	SLC30A3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2306519	NM_003459.5(SLC30A3):c.946C>T (p.Arg316Trp)	SLC30A3 (R303W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 735875	NM_003459.5(SLC30A3):c.933G>A (p.Ser311=)	SLC30A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2321887	NM_003459.5(SLC30A3):c.917G>A (p.Arg306Gln)	SLC30A3 (R306Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223625	NM_003459.5(SLC30A3):c.632G>A (p.Gly211Glu)	SLC30A3 (G206E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558087	NM_003459.5(SLC30A3):c.613C>G (p.His205Asp)	SLC30A3 (H192D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347647	NM_003459.5(SLC30A3):c.613C>A (p.His205Asn)	SLC30A3 (H205N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403457	NM_003459.5(SLC30A3):c.608C>A (p.Pro203His)	SLC30A3 (P198H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 727227	NM_003459.5(SLC30A3):c.573C>T (p.Asn191=)	SLC30A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2210755	NM_003459.5(SLC30A3):c.500G>A (p.Arg167His)	SLC30A3 (R154H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 737172	NM_003459.5(SLC30A3):c.456C>T (p.Ser152=)	SLC30A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2599623	NM_003459.5(SLC30A3):c.443C>T (p.Ala148Val)	SLC30A3 (A143V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 746050	NM_003459.5(SLC30A3):c.425-9C>A	SLC30A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2297139	NM_003459.5(SLC30A3):c.346A>T (p.Met116Leu)	SLC30A3 (M103L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 788390	NM_003459.5(SLC30A3):c.237C>T (p.Ala79=)	SLC30A3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2455014	NM_003459.5(SLC30A3):c.218G>A (p.Arg73Gln)	SLC30A3 (R60Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2238613	NM_003459.5(SLC30A3):c.188C>T (p.Pro63Leu)	SLC30A3 (P58L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 742963	NM_003459.5(SLC30A3):c.96-6C>T	SLC30A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2300080	NM_003459.5(SLC30A3):c.61C>G (p.Arg21Gly)	LOC129933368, SLC30A3 (R21G)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ZNF513, SLC5A6 +65 more	Duplication	not provided	GUncertain significance
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	SLC4A1AP, OTOF +72 more	Duplication	not provided	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	GALNT14, GAREM2 +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic

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Items: 39