3719[HGNC] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 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 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	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 2594170	NM_002013.4(FKBP3):c.566G>A (p.Arg189Gln)	FKBP3 (R189Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095314	NM_002013.4(FKBP3):c.559A>G (p.Lys187Glu)	FKBP3 (K187E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479868	NM_002013.4(FKBP3):c.514A>T (p.Ile172Phe)	FKBP3 (I172F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341145	NM_002013.4(FKBP3):c.394C>T (p.His132Tyr)	FKBP3 (H132Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290125	NM_002013.4(FKBP3):c.268C>T (p.Leu90Phe)	FKBP3 (L90F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486078	NM_002013.4(FKBP3):c.245C>T (p.Ser82Phe)	FKBP3 (S82F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407028	NM_002013.4(FKBP3):c.232A>G (p.Ile78Val)	FKBP3 (I78V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3095312	NM_002013.4(FKBP3):c.220G>C (p.Gly74Arg)	FKBP3 (G74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316564	NM_002013.4(FKBP3):c.194A>G (p.His65Arg)	FKBP3 (H65R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278733	NM_002013.4(FKBP3):c.73A>G (p.Ile25Val)	FKBP3 (I25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254350	NM_002013.4(FKBP3):c.22C>T (p.Arg8Trp)	FKBP3 (R8W)	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 2426634	NC_000014.8:g.(?_44820816)_(45645917_?)del	C14orf28, FANCM +5 more	Deletion	Fanconi anemia	GPathogenic
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 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 988921	GRCh37/hg19 14q21.2(chr14:45528916-46473581)x3	TOGARAM1, FANCM +3 more	Copy number gain	not provided	GUncertain significance
Select item 815651	GRCh37/hg19 14q21.2(chr14:45361304-46896735)x3	FANCM, FKBP3 +5 more	Copy number gain	not provided	GLikely benign
Select item 688196	GRCh37/hg19 14q21.2(chr14:45563086-45643146)x1	FANCM, FKBP3 +1 more	Copy number loss	not provided	GUncertain significance
Select item 564135	GRCh37/hg19 14q13.2-21.2(chr14:35934503-47120961)x1	BRMS1L, C14orf28 +29 more	Copy number loss	not provided	GPathogenic
Select item 564125	GRCh37/hg19 14q21.2(chr14:45548350-46158043)x3	FANCM, MIS18BP1 +2 more	Copy number gain	not provided	GLikely benign
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

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Items: 28