ClinVar for Gene (Select 122740) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2620242	NM_001004712.2(OR4K14):c.335A>G (p.Glu112Gly)	OR4K14 (E112G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558464	NM_001004712.2(OR4K14):c.917G>C (p.Arg306Pro)	OR4K14 (R306P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463974	NM_001004712.2(OR4K14):c.650T>C (p.Ile217Thr)	OR4K14 (I217T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459151	NM_001004712.2(OR4K14):c.680G>C (p.Arg227Thr)	OR4K14 (R227T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389750	NM_001004712.2(OR4K14):c.518A>G (p.Asn173Ser)	OR4K14 (N173S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2378670	NM_001004712.2(OR4K14):c.763T>C (p.Cys255Arg)	OR4K14 (C255R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372756	NM_001004712.2(OR4K14):c.229T>C (p.Phe77Leu)	OR4K14 (F77L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330853	NM_001004712.2(OR4K14):c.755T>C (p.Phe252Ser)	OR4K14 (F252S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267775	NM_001004712.2(OR4K14):c.553G>A (p.Val185Met)	OR4K14 (V185M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240890	NM_001004712.2(OR4K14):c.805G>A (p.Asp269Asn)	OR4K14 (D269N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222585	NM_001004712.2(OR4K14):c.589G>A (p.Gly197Ser)	OR4K14 (G197S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1341750	NC_000014.9:g.20013858_20436718dup	CCNB1IP1, KLHL33 +24 more	Duplication	14q11.2 microduplication syndrome	GUncertain significance
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	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 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	CIDEB, MIR208A +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic
Select item 157299	Single allele	LOC101929572, OR11H12 +15 more	Duplication	Normal pregnancy	Gnot provided
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic