ClinVar for Gene (Select 10979) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3094467	NM_006832.3(FERMT2):c.460A>C (p.Lys154Gln)	FERMT2 (K154Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094466	NM_006832.3(FERMT2):c.26C>T (p.Pro9Leu)	FERMT2 (P9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	not specified	GUncertain significance
Select item 2602776	NM_006832.3(FERMT2):c.1784G>T (p.Arg595Leu)	FERMT2 (R595L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602375	NM_006832.3(FERMT2):c.587A>G (p.His196Arg)	FERMT2 (H196R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528250	NM_006832.3(FERMT2):c.893C>G (p.Ala298Gly)	FERMT2 (A298G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525791	NM_006832.3(FERMT2):c.1982A>G (p.Lys661Arg)	FERMT2 (K661R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514728	NM_006832.3(FERMT2):c.658A>G (p.Ile220Val)	FERMT2 (I220V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478246	NM_006832.3(FERMT2):c.1718T>C (p.Phe573Ser)	FERMT2 (F573S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408713	NM_006832.3(FERMT2):c.1271G>A (p.Arg424Lys)	FERMT2 (R424K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400674	NM_006832.3(FERMT2):c.1603-560A>G	FERMT2 (I538V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2394212	NM_006832.3(FERMT2):c.67C>T (p.His23Tyr)	FERMT2 (H23Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364832	NM_006832.3(FERMT2):c.380G>C (p.Cys127Ser)	FERMT2 (C127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360888	NM_006832.3(FERMT2):c.25C>T (p.Pro9Ser)	FERMT2 (P9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357894	NM_006832.3(FERMT2):c.62G>C (p.Ser21Thr)	FERMT2 (S21T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353011	NM_006832.3(FERMT2):c.402C>A (p.His134Gln)	FERMT2 (H134Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326020	NM_006832.3(FERMT2):c.1481C>G (p.Ser494Cys)	FERMT2 (S494C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317736	NM_006832.3(FERMT2):c.1304C>T (p.Ser435Leu)	FERMT2 (S435L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310686	NM_006832.3(FERMT2):c.563C>G (p.Thr188Arg)	FERMT2 (T188R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298709	NM_006832.3(FERMT2):c.1217G>A (p.Cys406Tyr)	FERMT2 (C406Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287169	NM_006832.3(FERMT2):c.1079G>T (p.Gly360Val)	FERMT2 (G360V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284581	NM_006832.3(FERMT2):c.512T>C (p.Ile171Thr)	FERMT2 (I171T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257323	NM_006832.3(FERMT2):c.1442C>T (p.Ala481Val)	FERMT2 (A481V)	Single nucleotide variant (missense variant)	not specified	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	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +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	FSCB, FUT8 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 35