SLC44A3[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC126805769, LOC126805770 +548 more	Copy number gain	See cases	GPathogenic
Select item 2540732	NM_001114106.3(SLC44A3):c.28G>A (p.Val10Ile)	SLC44A3 (V10I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2210493	NM_001114106.3(SLC44A3):c.154T>C (p.Ser52Pro)	SLC44A3 (S16P +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2514881	NM_001114106.3(SLC44A3):c.172G>A (p.Ala58Thr)	SLC44A3 (A10T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2560300	NM_001114106.3(SLC44A3):c.173C>T (p.Ala58Val)	SLC44A3 (A22V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2570466	NM_001114106.3(SLC44A3):c.334C>T (p.Arg112Cys)	SLC44A3 (R15C +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2402513	NM_001114106.3(SLC44A3):c.646C>T (p.Leu216Phe)	SLC44A3 (L168F +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590783	NM_001114106.3(SLC44A3):c.889G>A (p.Val297Met)	SLC44A3 (V200M +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490619	NM_001114106.3(SLC44A3):c.895C>G (p.Leu299Val)	SLC44A3 (L219V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210433	NM_001114106.3(SLC44A3):c.898G>A (p.Val300Ile)	SLC44A3 (V203I +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2347120	NM_001114106.3(SLC44A3):c.1129C>T (p.Arg377Trp)	SLC44A3 (R297W +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383386	NM_001114106.3(SLC44A3):c.1256C>T (p.Pro419Leu)	SLC44A3 (P339L +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335392	NM_001114106.3(SLC44A3):c.1582A>G (p.Ile528Val)	SLC44A3 (I448V +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2391518	NM_001114106.3(SLC44A3):c.1736C>T (p.Ala579Val)	SLC44A3 (A499V +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230863	NM_001114106.3(SLC44A3):c.1738C>T (p.His580Tyr)	SLC44A3 (H544Y +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379350	NM_001114106.3(SLC44A3):c.1742G>T (p.Ser581Ile)	SLC44A3 (S548I +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606894	NM_001114106.3(SLC44A3):c.1951A>T (p.Ile651Phe)	SLC44A3 (I554F +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475879	NM_001114106.3(SLC44A3):c.1952T>C (p.Ile651Thr)	SLC44A3 (I583T +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063166	GRCh37/hg19 1p22.1-21.3(chr1:94304238-97280301)x3	ABCA4, ABCD3 +11 more	Copy number gain	not specified	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1073069	NC_000001.10:g.(?_94458793)_(95538454_?)del	ABCA4, ABCD3 +5 more	Deletion	not provided	GPathogenic
Select item 814108	GRCh37/hg19 1p22.1-21.3(chr1:93863518-96108930)x1	ABCA4, ABCD3 +11 more	Copy number loss	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565127	GRCh37/hg19 1p21.3(chr1:95000754-95323325)x3	SLC44A3, F3	Copy number gain	not provided	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 27