MIR9718[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 149300	GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1	ACTR10, ARID4A +202 more	Copy number loss	See cases	GPathogenic
Select item 57782	GRCh38/hg38 14q23.1(chr14:58146022-61273619)x1	ACTR10, ARID4A +113 more	Copy number loss	See cases	GPathogenic
Select item 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	LOC132090233, LOC132090234 +264 more	Copy number loss	See cases	GPathogenic
Select item 144205	GRCh38/hg38 14q23.1(chr14:60401009-60861986)x3	C14orf39, LOC110121407 +15 more	Copy number gain	See cases	GUncertain significance
Select item 1691650	NM_005982.4(SIX1):c.533G>C (p.Arg178Thr)	MIR9718, SIX1 (R178T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1306414	NM_005982.4(SIX1):c.531_532del (p.Asp179fs)	MIR9718, SIX1 (D179fs)	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2924817	NM_005982.4(SIX1):c.528G>T (p.Arg176Ser)	MIR9718, SIX1 (R176S)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 1710420	NM_005982.4(SIX1):c.527G>A (p.Arg176Lys)	MIR9718, SIX1 (R176K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1310217	NM_005982.4(SIX1):c.524G>C (p.Arg175Pro)	MIR9718, SIX1 (R175P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1305847	NM_005982.4(SIX1):c.524G>A (p.Arg175Gln)	MIR9718, SIX1 (R175Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiootic syndrome 3 +2 more	GUncertain significance
Select item 1720328	NM_005982.4(SIX1):c.522C>A (p.Asn174Lys)	MIR9718, SIX1 (N174K)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 1184456	NM_005982.4(SIX1):c.517A>C (p.Lys173Gln)	SIX1, MIR9718 (K173Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1175856	NM_005982.4(SIX1):c.510C>G (p.Asn170Lys)	MIR9718, SIX1 (N170K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 450530	NM_005982.4(SIX1):c.510C>A (p.Asn170Lys)	SIX1, MIR9718 (N170K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2662938	NM_005982.4(SIX1):c.502G>A (p.Val168Ile)	MIR9718, SIX1 (V168I)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiootic syndrome 3 +2 more	GUncertain significance
Select item 1687607	NM_005982.4(SIX1):c.501G>C (p.Gln167His)	MIR9718, SIX1 (Q167H)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiootic syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 1805006	NM_005982.4(SIX1):c.500A>G (p.Gln167Arg)	MIR9718, SIX1 (Q167R)	Single nucleotide variant (non-coding transcript variant +1 more)	Melnick-Fraser syndrome	GLikely pathogenic
Select item 880804	NM_005982.4(SIX1):c.495C>T (p.Thr165=)	MIR9718, SIX1	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 2948002	NM_005982.4(SIX1):c.487C>T (p.Leu163Phe)	MIR9718, SIX1 (L163F)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 229251	NM_005982.4(SIX1):c.487C>G (p.Leu163Val)	MIR9718, SIX1 (L163V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2158194	NM_005982.4(SIX1):c.483C>T (p.Thr161=)	MIR9718, SIX1	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiootic syndrome 3 +1 more	GLikely benign
Select item 2923781	NM_005982.4(SIX1):c.482C>G (p.Thr161Ser)	MIR9718, SIX1 (T161S)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 2182582	NM_005982.4(SIX1):c.468_480dup (p.Thr161fs)	MIR9718, SIX1 (T161fs)	Duplication (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance

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Items: 26