ClinVar for Gene (Select 122773) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3288846	NM_172193.3(KLHDC1):c.814A>G (p.Ile272Val)	KLHDC1 (I272V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288845	NM_172193.3(KLHDC1):c.971C>G (p.Ala324Gly)	KLHDC1 (A324G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288844	NM_172193.3(KLHDC1):c.1102A>G (p.Lys368Glu)	KLHDC1 (K368E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288843	NM_172193.3(KLHDC1):c.314A>G (p.Asp105Gly)	KLHDC1 (D105G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288842	NM_172193.3(KLHDC1):c.995A>G (p.Asp332Gly)	KLHDC1 (D332G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115364	NM_172193.3(KLHDC1):c.85G>C (p.Gly29Arg)	KLHDC1, LOC130055543 (G29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115363	NM_172193.3(KLHDC1):c.610G>T (p.Val204Phe)	KLHDC1 (V204F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115362	NM_172193.3(KLHDC1):c.602C>T (p.Thr201Ile)	KLHDC1 (T201I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115361	NM_172193.3(KLHDC1):c.46C>T (p.His16Tyr)	KLHDC1 (H16Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115360	NM_172193.3(KLHDC1):c.466G>A (p.Val156Ile)	KLHDC1 (V156I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115359	NM_172193.3(KLHDC1):c.326T>G (p.Ile109Ser)	KLHDC1 (I109S)	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 2600414	NM_172193.3(KLHDC1):c.835A>C (p.Ile279Leu)	KLHDC1 (I279L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570256	NM_172193.3(KLHDC1):c.227G>C (p.Cys76Ser)	KLHDC1 (C76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553908	NM_172193.3(KLHDC1):c.604T>G (p.Cys202Gly)	KLHDC1 (C202G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531986	NM_172193.3(KLHDC1):c.646G>A (p.Val216Ile)	KLHDC1 (V216I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468932	NM_172193.3(KLHDC1):c.371G>A (p.Arg124His)	KLHDC1 (R124H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408826	NM_172193.3(KLHDC1):c.83G>T (p.Trp28Leu)	KLHDC1, LOC130055543 (W28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385995	NM_172193.3(KLHDC1):c.568G>A (p.Gly190Ser)	KLHDC1 (G190S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380482	NM_172193.3(KLHDC1):c.323A>G (p.Tyr108Cys)	KLHDC1 (Y108C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368025	NM_172193.3(KLHDC1):c.1157G>A (p.Arg386Gln)	KLHDC1 (R386Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365230	NM_172193.3(KLHDC1):c.1217A>G (p.Asn406Ser)	KLHDC1 (N406S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362128	NM_172193.3(KLHDC1):c.650T>C (p.Leu217Pro)	KLHDC1 (L217P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356384	NM_172193.3(KLHDC1):c.914G>C (p.Cys305Ser)	KLHDC1 (C305S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313894	NM_172193.3(KLHDC1):c.1070T>C (p.Met357Thr)	KLHDC1 (M357T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305001	NM_172193.3(KLHDC1):c.386G>C (p.Cys129Ser)	KLHDC1 (C129S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299979	NM_172193.3(KLHDC1):c.85G>T (p.Gly29Trp)	KLHDC1, LOC130055543 (G29W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297629	NM_172193.3(KLHDC1):c.461T>C (p.Phe154Ser)	KLHDC1 (F154S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269830	NM_172193.3(KLHDC1):c.53C>T (p.Ala18Val)	KLHDC1 (A18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234136	NM_172193.3(KLHDC1):c.98C>T (p.Ser33Phe)	KLHDC1 (S33F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221474	NM_172193.3(KLHDC1):c.106G>C (p.Asp36His)	KLHDC1 (D36H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215485	NM_172193.3(KLHDC1):c.382T>C (p.Ser128Pro)	KLHDC1 (S128P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	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 1527812	GRCh37/hg19 14q21.2-21.3(chr14:45827312-50529931)	ARF6, DNAAF2 +14 more	Copy number gain	not specified	GUncertain significance
Select item 776837	NM_172193.3(KLHDC1):c.603= (p.Thr201=)	KLHDC1	Variation (no sequence alteration)	not provided	GBenign
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394818	GRCh37/hg19 14q21.3(chr14:50176512-50298072)x3	KLHDC1, KLHDC2 +1 more	Copy number gain	See cases	GUncertain significance
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 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 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 42