SLC9A8[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 58973	GRCh38/hg38 20q13.13-13.2(chr20:49731076-51202566)x1	ADNP, ADNP-AS1 +124 more	Copy number loss	See cases	GPathogenic
Select item 2520136	NM_015266.3(SLC9A8):c.59A>G (p.Asn20Ser)	SLC9A8 (N20S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165724	NM_015266.3(SLC9A8):c.113C>T (p.Pro38Leu)	SLC9A8 (P38L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165725	NM_015266.3(SLC9A8):c.133G>A (p.Val45Met)	SLC9A8 (V45M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272867	NM_015266.3(SLC9A8):c.225G>C (p.Leu75Phe)	SLC9A8 (L75F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536383	NM_015266.3(SLC9A8):c.253C>T (p.His85Tyr)	SLC9A8 (H85Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165728	NM_015266.3(SLC9A8):c.311T>C (p.Ile104Thr)	SLC9A8 (I104T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392444	NM_015266.3(SLC9A8):c.400A>G (p.Ile134Val)	SLC9A8 (I134V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471579	NM_015266.3(SLC9A8):c.562A>G (p.Thr188Ala)	SLC9A8 (T188A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165729	NM_015266.3(SLC9A8):c.567C>G (p.Asp189Glu)	SLC9A8 (D205E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556438	NM_015266.3(SLC9A8):c.570T>C (p.Ser190=)	SLC9A8	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2335881	NM_015266.3(SLC9A8):c.620C>T (p.Ala207Val)	SLC9A8 (A223V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483864	NM_015266.3(SLC9A8):c.724G>A (p.Gly242Ser)	SLC9A8 (G242S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467069	NM_015266.3(SLC9A8):c.727T>A (p.Leu243Ile)	SLC9A8 (L243I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525456	NM_015266.3(SLC9A8):c.764A>G (p.Gln255Arg)	SLC9A8 (Q255R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515538	NM_015266.3(SLC9A8):c.796A>G (p.Lys266Glu)	SLC9A8 (K266E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590519	NM_015266.3(SLC9A8):c.853G>A (p.Val285Met)	SLC9A8 (V285M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403590	NM_015266.3(SLC9A8):c.881C>T (p.Thr294Met)	SLC9A8 (T310M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165730	NM_015266.3(SLC9A8):c.979T>C (p.Ser327Pro)	SLC9A8 (S327P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377180	NM_015266.3(SLC9A8):c.1171T>G (p.Phe391Val)	SLC9A8 (F407V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476100	NM_015266.3(SLC9A8):c.1334G>A (p.Arg445Gln)	SLC9A8 (R445Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165726	NM_015266.3(SLC9A8):c.1465G>A (p.Val489Ile)	SLC9A8 (V505I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238614	NM_015266.3(SLC9A8):c.1618A>C (p.Thr540Pro)	SLC9A8 (T540P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2652391	NM_015266.3(SLC9A8):c.1650C>T (p.His550=)	SLC9A8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1807864	GRCh37/hg19 20q13.13(chr20:48352572-48766664)x3	PEDS1, PEDS1-UBE2V1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 688025	GRCh37/hg19 20q13.13(chr20:48023123-48581111)x1	B4GALT5, KCNB1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 560064	Single allele	ADNP, ARFGEF2 +27 more	Duplication	not provided	GUncertain significance
Select item 443773	GRCh37/hg19 20q13.13-13.2(chr20:47627844-52045480)x1	ADNP, ARFGEF2 +28 more	Copy number loss	See cases	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 442502	GRCh37/hg19 20q13.13-13.2(chr20:47726521-50427649)x1	SPATA2, STAU1 +24 more	Copy number loss	See cases	GLikely pathogenic
Select item 187826	GRCh37/hg19 20q13.13-13.2(chr20:47682662-49884981)x1	KCNG1, SPATA2 +22 more	Copy number loss	See cases	GLikely pathogenic

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Items: 35