ClinVar for Gene (Select 10979) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2644241	NM_006832.3(FERMT2):c.1077G>C (p.Gly359=)	FERMT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602794	NM_006832.3(FERMT2):c.295C>G (p.Leu99Val)	FERMT2 (L99V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602776	NM_006832.3(FERMT2):c.1784G>T (p.Arg595Leu)	FERMT2 (R595L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602375	NM_006832.3(FERMT2):c.587A>G (p.His196Arg)	FERMT2 (H196R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528250	NM_006832.3(FERMT2):c.893C>G (p.Ala298Gly)	FERMT2 (A298G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525791	NM_006832.3(FERMT2):c.1982A>G (p.Lys661Arg)	FERMT2 (K661R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514728	NM_006832.3(FERMT2):c.658A>G (p.Ile220Val)	FERMT2 (I220V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478246	NM_006832.3(FERMT2):c.1718T>C (p.Phe573Ser)	FERMT2 (F573S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408713	NM_006832.3(FERMT2):c.1271G>A (p.Arg424Lys)	FERMT2 (R424K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400674	NM_006832.3(FERMT2):c.1603-560A>G	FERMT2 (I538V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2394212	NM_006832.3(FERMT2):c.67C>T (p.His23Tyr)	FERMT2 (H23Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364832	NM_006832.3(FERMT2):c.380G>C (p.Cys127Ser)	FERMT2 (C127S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360888	NM_006832.3(FERMT2):c.25C>T (p.Pro9Ser)	FERMT2 (P9S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357894	NM_006832.3(FERMT2):c.62G>C (p.Ser21Thr)	FERMT2 (S21T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353011	NM_006832.3(FERMT2):c.402C>A (p.His134Gln)	FERMT2 (H134Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326020	NM_006832.3(FERMT2):c.1481C>G (p.Ser494Cys)	FERMT2 (S494C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317736	NM_006832.3(FERMT2):c.1304C>T (p.Ser435Leu)	FERMT2 (S435L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310686	NM_006832.3(FERMT2):c.563C>G (p.Thr188Arg)	FERMT2 (T188R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298709	NM_006832.3(FERMT2):c.1217G>A (p.Cys406Tyr)	FERMT2 (C406Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287169	NM_006832.3(FERMT2):c.1079G>T (p.Gly360Val)	FERMT2 (G360V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284581	NM_006832.3(FERMT2):c.512T>C (p.Ile171Thr)	FERMT2 (I171T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257323	NM_006832.3(FERMT2):c.1442C>T (p.Ala481Val)	FERMT2 (A481V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1527818	GRCh37/hg19 14q22.1-22.3(chr14:53241194-55803026)	BMP4, CDKN3 +15 more	Copy number loss	not specified	GPathogenic
Select item 564118	GRCh37/hg19 14q22.1(chr14:53077252-53557861)x3	DDHD1, GNPNAT1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	LRR1, MAP4K5 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 146623	GRCh38/hg38 14q22.1-22.3(chr14:51544846-55320598)x1	BMP4, CDKN3 +147 more	Copy number loss	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 33