Related gene-specific medical variations for Gene (Select 84679) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360987	NM_001257291.2(SLC9A7):c.1589C>T (p.Thr530Ile)	SLC9A7 (T529I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359686	NM_001257291.2(SLC9A7):c.1949A>C (p.Glu650Ala)	SLC9A7 (E649A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233321	NM_001257291.2(SLC9A7):c.2141G>A (p.Arg714Gln)	SLC9A7 (R713Q +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 108	GUncertain significance
Select item 3025732	NM_001257291.2(SLC9A7):c.74T>C (p.Leu25Pro)	LOC130068197, SLC9A7 (L25P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874478	NM_001257291.2(SLC9A7):c.77_85dup (p.Leu28_Leu29insProLeuLeu)	LOC130068197, SLC9A7	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2722482	NM_001257291.2(SLC9A7):c.105C>G (p.Val35=)	LOC130068197, SLC9A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722481	NM_001257291.2(SLC9A7):c.114GGCCTC[3] (p.Ser42_Ser43insAlaSer)	LOC130068197, SLC9A7	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2690037	NM_001257291.2(SLC9A7):c.460A>G (p.Thr154Ala)	SLC9A7 (T154A)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 108	GUncertain significance
Select item 2660393	NM_001257291.2(SLC9A7):c.106GCGGCC[3] (p.Ala39_Ser40insAlaAla)	LOC130068197, SLC9A7	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2594111	NM_001257291.2(SLC9A7):c.7C>T (p.Pro3Ser)	LOC130068197, SLC9A7 (P3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2442705	NM_001257291.2(SLC9A7):c.77_82dup (p.Leu27_Leu28insProLeu)	LOC130068197, SLC9A7	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2436082	NM_001257291.2(SLC9A7):c.1667A>G (p.Gln556Arg)	SLC9A7 (Q555R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 108	GUncertain significance
Select item 2436081	NM_001257291.2(SLC9A7):c.2171A>T (p.Asp724Val)	SLC9A7 (D723V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 108	GUncertain significance
Select item 2436080	NM_001257291.2(SLC9A7):c.1693G>A (p.Asp565Asn)	SLC9A7 (D564N +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 108	GUncertain significance
Select item 2436079	NM_001257291.2(SLC9A7):c.1999G>A (p.Gly667Arg)	SLC9A7 (G666R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 108	GUncertain significance
Select item 2405505	NM_001257291.2(SLC9A7):c.104T>G (p.Val35Gly)	LOC130068197, SLC9A7 (V35G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306282	NM_001257291.2(SLC9A7):c.58C>T (p.Pro20Ser)	LOC130068197, SLC9A7 (P20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261479	NM_001257291.2(SLC9A7):c.106G>C (p.Ala36Pro)	LOC130068197, SLC9A7 (A36P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2053249	NM_001257291.2(SLC9A7):c.73_87del (p.Leu25_Leu29del)	LOC130068197, SLC9A7	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 1896522	NM_001257291.2(SLC9A7):c.89G>A (p.Gly30Asp)	LOC130068197, SLC9A7 (G30D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1879760	NM_001257291.2(SLC9A7):c.97C>T (p.Leu33=)	LOC130068197, SLC9A7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1679710	NM_001257291.2(SLC9A7):c.1447ATG[2] (p.Met485del)	SLC9A7 (M484del +1 more)	Microsatellite (inframe_deletion)	Intellectual developmental disorder, X-linked 108	GUncertain significance

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Links from Gene

Items: 22