NSUN6[gene] and "single gene"[properties] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2507618	NM_182543.5(NSUN6):c.1395A>C (p.Lys465Asn)	NSUN6 (K413N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301196	NM_182543.5(NSUN6):c.1390G>T (p.Val464Leu)	NSUN6 (V412L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202446	NM_182543.5(NSUN6):c.1372T>C (p.Phe458Leu)	NSUN6 (F458L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202445	NM_182543.5(NSUN6):c.1366A>G (p.Ile456Val)	NSUN6 (I315V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202444	NM_182543.5(NSUN6):c.1351G>A (p.Ala451Thr)	NSUN6 (A439T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068713	NM_182543.5(NSUN6):c.1320_1323del (p.Glu441fs)	NSUN6 (E300fs +4 more)	Microsatellite (frameshift variant)	Intellectual developmental disorder, autosomal recessive 82	GPathogenic
Select item 3202443	NM_182543.5(NSUN6):c.1280C>T (p.Ser427Leu)	NSUN6 (S286L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527412	NM_182543.5(NSUN6):c.1246G>C (p.Glu416Gln)	NSUN6 (E416Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510966	NM_182543.5(NSUN6):c.1223T>G (p.Met408Arg)	NSUN6 (M267R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368524	NM_182543.5(NSUN6):c.1209T>G (p.Ile403Met)	NSUN6 (I262M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339430	NM_182543.5(NSUN6):c.1193C>G (p.Pro398Arg)	NSUN6 (P386R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403291	NM_182543.5(NSUN6):c.1191G>T (p.Gln397His)	NSUN6 (Q396H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 806449	NM_182543.5(NSUN6):c.1148A>G (p.Gln383Arg)	NSUN6 (Q331R +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3202442	NM_182543.5(NSUN6):c.1129C>G (p.Leu377Val)	NSUN6 (L365V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222077	NM_182543.5(NSUN6):c.1070C>T (p.Ala357Val)	NSUN6 (A345V +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2374518	NM_182543.5(NSUN6):c.1055G>A (p.Arg352Gln)	NSUN6 (R300Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301195	NM_182543.5(NSUN6):c.997C>T (p.Pro333Ser)	NSUN6 (P192S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068712	NM_182543.5(NSUN6):c.967G>A (p.Asp323Asn)	NSUN6 (D323N +4 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 82	GPathogenic
Select item 3202452	NM_182543.5(NSUN6):c.901G>A (p.Asp301Asn)	NSUN6 (D160N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244689	NM_182543.5(NSUN6):c.881G>C (p.Gly294Ala)	NSUN6 (G153A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480822	NM_182543.5(NSUN6):c.868T>C (p.Phe290Leu)	NSUN6 (F289L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202451	NM_182543.5(NSUN6):c.866C>A (p.Ala289Glu)	NSUN6 (A148E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247475	NM_182543.5(NSUN6):c.811A>G (p.Lys271Glu)	NSUN6 (K219E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396057	NM_182543.5(NSUN6):c.641G>A (p.Arg214His)	NSUN6 (R162H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374089	NM_182543.5(NSUN6):c.628A>G (p.Ser210Gly)	NSUN6 (S198G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223067	NM_182543.5(NSUN6):c.538A>G (p.Ser180Gly)	NSUN6 (S168G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318347	NM_182543.5(NSUN6):c.503C>T (p.Thr168Ile)	NSUN6 (T167I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599380	NM_182543.5(NSUN6):c.416C>T (p.Ser139Leu)	NSUN6 (S138L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605972	NM_182543.5(NSUN6):c.407T>G (p.Val136Gly)	NSUN6 (V135G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202449	NM_182543.5(NSUN6):c.376A>G (p.Arg126Gly)	NSUN6 (R74G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202448	NM_182543.5(NSUN6):c.343A>G (p.Ile115Val)	NSUN6 (I114V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358541	NM_182543.5(NSUN6):c.302T>C (p.Ile101Thr)	NSUN6 (I100T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202447	NM_182543.5(NSUN6):c.295C>T (p.Pro99Ser)	NSUN6 (P87S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370044	NM_182543.5(NSUN6):c.206A>G (p.Asn69Ser)	NSUN6 (N57S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332475	NM_182543.5(NSUN6):c.142C>T (p.His48Tyr)	NSUN6 (H36Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509874	NM_182543.5(NSUN6):c.118G>A (p.Glu40Lys)	NSUN6 (E28K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301194	NM_182543.5(NSUN6):c.59G>T (p.Gly20Val)	NSUN6 (G20V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202450	NM_182543.5(NSUN6):c.58G>A (p.Gly20Ser)	NSUN6 (G20S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 806450	NM_182543.5(NSUN6):c.25_26del (p.Leu9fs)	NSUN6 (L9fs)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2400268	NM_182543.5(NSUN6):c.7A>G (p.Ile3Val)	NSUN6 (I3V)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 815323	GRCh37/hg19 10p12.31(chr10:18867069-18944902)x1	NSUN6	Copy number loss	not provided	GLikely benign

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Items: 41