12422[HGNC] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 150034	GRCh38/hg38 1q21.3(chr1:150989333-151584777)x1	ANXA9, BNIPL +59 more	Copy number loss	See cases	GLikely pathogenic
Select item 2505312	NM_020127.3(TUFT1):c.60+1G>A	TUFT1	Single nucleotide variant (splice donor variant)	Woolly hair-skin fragility syndrome	GPathogenic
Select item 778237	NM_020127.3(TUFT1):c.61-246G>A	TUFT1 (A36T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3184855	NM_020127.3(TUFT1):c.79A>G (p.Arg27Gly)	TUFT1 (R46G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259228	NM_020127.3(TUFT1):c.242A>G (p.Tyr81Cys)	TUFT1 (Y56C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466907	NM_020127.3(TUFT1):c.320A>C (p.Gln107Pro)	TUFT1 (Q82P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466908	NM_020127.3(TUFT1):c.321G>C (p.Gln107His)	TUFT1 (Q126H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392915	NM_020127.3(TUFT1):c.349C>T (p.Arg117Trp)	TUFT1 (R117W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280768	NM_020127.3(TUFT1):c.359T>C (p.Ile120Thr)	TUFT1 (I120T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335183	NM_020127.3(TUFT1):c.404A>G (p.Gln135Arg)	TUFT1 (Q154R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389805	NM_020127.3(TUFT1):c.437G>A (p.Gly146Asp)	TUFT1 (G121D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184849	NM_020127.3(TUFT1):c.466A>G (p.Ser156Gly)	TUFT1 (S156G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184850	NM_020127.3(TUFT1):c.470G>A (p.Ser157Asn)	TUFT1 (S157N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505311	NM_020127.3(TUFT1):c.564del (p.Gln189fs)	TUFT1 (Q164fs +2 more)	Deletion (frameshift variant)	Woolly hair-skin fragility syndrome	GPathogenic
Select item 3184851	NM_020127.3(TUFT1):c.580T>C (p.Cys194Arg)	TUFT1 (C169R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3184852	NM_020127.3(TUFT1):c.659A>G (p.Asp220Gly)	TUFT1 (D220G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351634	NM_020127.3(TUFT1):c.665T>C (p.Val222Ala)	TUFT1 (V222A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2329011	NM_020127.3(TUFT1):c.674A>G (p.Lys225Arg)	TUFT1 (K244R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371047	NM_020127.3(TUFT1):c.706T>G (p.Leu236Val)	TUFT1 (L236V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330268	NM_020127.3(TUFT1):c.781C>T (p.Arg261Trp)	LOC126805860, TUFT1 (R236W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184853	NM_020127.3(TUFT1):c.782G>A (p.Arg261Gln)	LOC126805860, TUFT1 (R280Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228913	NM_020127.3(TUFT1):c.829C>G (p.Leu277Val)	TUFT1 (L252V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2672350	NM_020127.3(TUFT1):c.874G>T (p.Asp292Tyr)	TUFT1 (D267Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2615155	NM_020127.3(TUFT1):c.899G>A (p.Arg300Gln)	TUFT1 (R300Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357460	NM_020127.3(TUFT1):c.908G>A (p.Arg303Gln)	TUFT1 (R278Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378106	NM_020127.3(TUFT1):c.961G>A (p.Ala321Thr)	TUFT1 (A296T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2293322	NM_020127.3(TUFT1):c.1085G>A (p.Arg362Gln)	TUFT1 (R362Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226559	NM_020127.3(TUFT1):c.1085G>T (p.Arg362Leu)	TUFT1 (R337L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404654	NM_020127.3(TUFT1):c.1127C>T (p.Pro376Leu)	TUFT1 (P351L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247711	NC_000001.10:g.(?_151314662)_(151666077_?)del	CGN, POGZ +5 more	Deletion	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	SELENBP1, SEMA4A +228 more	Duplication	Kostmann syndrome +3 more	GUncertain significance
Select item 1023952	NC_000001.10:g.(?_151122490)_(151585008_?)dup	PSMB4, PIP5K1A +14 more	Duplication	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic

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Items: 41