ClinVar for Gene (Select 56941) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3106202	NM_020187.3(HMCES):c.78G>C (p.Gln26His)	HMCES (Q26H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106201	NM_020187.3(HMCES):c.653A>G (p.Asp218Gly)	HMCES (D170G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106200	NM_020187.3(HMCES):c.64G>A (p.Asp22Asn)	HMCES (D22N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106199	NM_020187.3(HMCES):c.63G>C (p.Gln21His)	HMCES (Q21H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106198	NM_020187.3(HMCES):c.463A>C (p.Ile155Leu)	HMCES (I155L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106197	NM_020187.3(HMCES):c.322T>G (p.Phe108Val)	HMCES (F108V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598328	NM_020187.3(HMCES):c.389G>A (p.Arg130Gln)	HMCES (R82Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590702	NM_020187.3(HMCES):c.221G>A (p.Arg74His)	HMCES (R74H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514107	NM_020187.3(HMCES):c.680T>C (p.Leu227Pro)	HMCES (L179P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507450	NM_020187.3(HMCES):c.811G>A (p.Asp271Asn)	HMCES (D223N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2424798	NC_000003.11:g.(?_126707437)_(130720194_?)dup	ABTB1, ACAD9 +38 more	Duplication	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 2400544	NM_020187.3(HMCES):c.428A>G (p.Tyr143Cys)	HMCES (Y143C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398320	NM_020187.3(HMCES):c.214C>A (p.Pro72Thr)	HMCES (P72T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375167	NM_020187.3(HMCES):c.221G>T (p.Arg74Leu)	HMCES (R74L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339199	NM_020187.3(HMCES):c.742A>C (p.Thr248Pro)	HMCES (T206P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325642	NM_020187.3(HMCES):c.146A>G (p.Asn49Ser)	HMCES (N49S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2325065	NM_020187.3(HMCES):c.463A>G (p.Ile155Val)	HMCES (I107V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316632	NM_020187.3(HMCES):c.918G>C (p.Lys306Asn)	HMCES (K258N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316542	NM_020187.3(HMCES):c.203G>A (p.Arg68His)	HMCES (R68H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300032	NM_020187.3(HMCES):c.533G>A (p.Gly178Glu)	HMCES (G136E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287726	NM_020187.3(HMCES):c.479G>A (p.Ser160Asn)	HMCES (S160N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283753	NM_020187.3(HMCES):c.29C>T (p.Pro10Leu)	HMCES (P10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278095	NM_020187.3(HMCES):c.302C>T (p.Thr101Ile)	HMCES (T101I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255381	NM_020187.3(HMCES):c.988A>G (p.Thr330Ala)	HMCES (T330A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240094	NM_020187.3(HMCES):c.316C>T (p.Arg106Trp)	HMCES (R106W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210051	NM_020187.3(HMCES):c.1049G>A (p.Arg350His)	HMCES (R350H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	KALRN, KBTBD12 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 830616	NC_000003.12:g.(?_129170453)_(129551340_?)dup	CNBP, COPG1 +7 more	Duplication	not provided	GUncertain significance
Select item 731675	NM_020187.3(HMCES):c.696C>T (p.Val232=)	HMCES	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711885	NM_020187.3(HMCES):c.184-7G>A	HMCES	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 562815	GRCh37/hg19 3q21.3-22.1(chr3:128660985-129811200)x1	ALG1L2, CFAP92 +17 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	ABTB1, ACAD11 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC126806816, LOC126806817 +484 more	Copy number gain	See cases	GUncertain significance
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 40