SLC4A8[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	ACVRL1, ANKRD33 +206 more	Copy number loss	See cases	GPathogenic
Select item 152062	GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	ACVR1B, ACVRL1 +136 more	Copy number loss	See cases	GPathogenic
Select item 2588154	NM_001039960.3(SLC4A8):c.521T>C (p.Ile174Thr)	SLC4A8 (I121T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485364	NM_001039960.3(SLC4A8):c.769A>T (p.Thr257Ser)	SLC4A8 (T204S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536596	NM_001039960.3(SLC4A8):c.922G>A (p.Val308Met)	SLC4A8 (V255M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332023	NM_001039960.3(SLC4A8):c.922G>C (p.Val308Leu)	SLC4A8 (V296L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517086	NM_001039960.3(SLC4A8):c.1181C>T (p.Thr394Met)	SLC4A8 (T341M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275448	NM_001039960.3(SLC4A8):c.1348C>T (p.Arg450Trp)	SLC4A8 (R438W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1299440	NM_001039960.3(SLC4A8):c.1460G>T (p.Cys487Phe)	SLC4A8 (C434F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2594158	NM_001039960.3(SLC4A8):c.1508C>T (p.Ala503Val)	SLC4A8 (A503V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618587	NM_001039960.3(SLC4A8):c.1751C>T (p.Ser584Phe)	SLC4A8 (S572F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248975	NM_001039960.3(SLC4A8):c.1903T>C (p.Tyr635His)	SLC4A8 (Y582H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369500	NM_001039960.3(SLC4A8):c.1942A>T (p.Thr648Ser)	SLC4A8 (T595S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284557	NM_001039960.3(SLC4A8):c.2020G>A (p.Glu674Lys)	SLC4A8 (E621K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391091	NM_001039960.3(SLC4A8):c.2141C>T (p.Thr714Met)	SLC4A8 (T702M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535246	NM_001039960.3(SLC4A8):c.2156G>A (p.Arg719His)	SLC4A8 (R719H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222433	NM_001039960.3(SLC4A8):c.2204T>C (p.Phe735Ser)	SLC4A8 (F682S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226211	NM_001039960.3(SLC4A8):c.2241G>T (p.Leu747Phe)	SLC4A8 (L694F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275023	NM_001039960.3(SLC4A8):c.2416G>A (p.Val806Ile)	SLC4A8 (V794I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271600	NM_001039960.3(SLC4A8):c.3073G>A (p.Glu1025Lys)	LOC130007925, SLC4A8 (E1013K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382918	NM_001039960.3(SLC4A8):c.3104T>C (p.Ile1035Thr)	SLC4A8 (I897T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 624492	GRCh37/hg19 12q13.13(chr12:51880647-52370250)x3	ACVR1B, ACVRL1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 27