"Ambry Genetics"[submitter] AND "KLHDC1"[gene] - ClinVar

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

Search results

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2269830	NM_172193.3(KLHDC1):c.53C>T (p.Ala18Val)	KLHDC1 (A18V)	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 3115364	NM_172193.3(KLHDC1):c.85G>C (p.Gly29Arg)	KLHDC1, LOC130055543 (G29R)	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 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 2570256	NM_172193.3(KLHDC1):c.227G>C (p.Cys76Ser)	KLHDC1 (C76S)	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 2380482	NM_172193.3(KLHDC1):c.323A>G (p.Tyr108Cys)	KLHDC1 (Y108C)	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 2468932	NM_172193.3(KLHDC1):c.371G>A (p.Arg124His)	KLHDC1 (R124H)	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 2305001	NM_172193.3(KLHDC1):c.386G>C (p.Cys129Ser)	KLHDC1 (C129S)	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 3115360	NM_172193.3(KLHDC1):c.466G>A (p.Val156Ile)	KLHDC1 (V156I)	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 3115362	NM_172193.3(KLHDC1):c.602C>T (p.Thr201Ile)	KLHDC1 (T201I)	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 3115363	NM_172193.3(KLHDC1):c.610G>T (p.Val204Phe)	KLHDC1 (V204F)	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 2362128	NM_172193.3(KLHDC1):c.650T>C (p.Leu217Pro)	KLHDC1 (L217P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2600414	NM_172193.3(KLHDC1):c.835A>C (p.Ile279Leu)	KLHDC1 (I279L)	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 3288845	NM_172193.3(KLHDC1):c.971C>G (p.Ala324Gly)	KLHDC1 (A324G)	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 2313894	NM_172193.3(KLHDC1):c.1070T>C (p.Met357Thr)	KLHDC1 (M357T)	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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 31