DGKH[gene] and "single gene"[properties] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3081920	NM_178009.5(DGKH):c.185G>A (p.Arg62Gln)	DGKH (R62Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545125	NM_178009.5(DGKH):c.254G>C (p.Arg85Pro)	DGKH (R85P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372173	NM_178009.5(DGKH):c.254G>T (p.Arg85Leu)	DGKH (R85L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527670	NM_178009.5(DGKH):c.464C>A (p.Ser155Tyr)	DGKH (S19Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081925	NM_178009.5(DGKH):c.467T>C (p.Val156Ala)	DGKH (V20A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081926	NM_178009.5(DGKH):c.484T>A (p.Tyr162Asn)	DGKH (Y26N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2643789	NM_178009.5(DGKH):c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DGKH	Insertion (intron variant)	not provided	GLikely benign
Select item 2643788	NM_178009.5(DGKH):c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DGKH	Insertion (intron variant)	not provided	GLikely benign
Select item 2643787	NM_178009.5(DGKH):c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DGKH	Insertion (intron variant)	not provided	GLikely benign
Select item 2643786	NM_178009.5(DGKH):c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DGKH	Insertion (intron variant)	not provided	GLikely benign
Select item 2643785	NM_178009.5(DGKH):c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DGKH	Insertion (intron variant)	not provided	GLikely benign
Select item 2643784	NM_178009.5(DGKH):c.623-3_623-2insTTTTTTTTTTTTTTTTTTTTTTTTTT	DGKH	Insertion (intron variant)	not provided	GLikely benign
Select item 2643783	NM_178009.5(DGKH):c.623-3_623-2insTTTTTTTTTTTTTTTTTTTT	DGKH	Insertion (intron variant)	not provided	GLikely benign
Select item 2643782	NM_178009.5(DGKH):c.623-17_623-3dup	DGKH	Duplication (intron variant)	not provided	GLikely benign
Select item 2348628	NM_178009.5(DGKH):c.686C>T (p.Thr229Ile)	DGKH (T229I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2243997	NM_178009.5(DGKH):c.950A>G (p.Asp317Gly)	DGKH (D317G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206522	NM_178009.5(DGKH):c.986G>A (p.Cys329Tyr)	DGKH (C84Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323809	NM_178009.5(DGKH):c.1052G>A (p.Arg351His)	DGKH (R215H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256960	NM_178009.5(DGKH):c.1108C>G (p.Pro370Ala)	DGKH (P125A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284457	NM_178009.5(DGKH):c.1516G>A (p.Ala506Thr)	DGKH (A506T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390242	NM_178009.5(DGKH):c.1555G>A (p.Val519Ile)	DGKH (V274I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326262	NM_178009.5(DGKH):c.1567G>A (p.Val523Ile)	DGKH (V387I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643790	NM_178009.5(DGKH):c.1584G>A (p.Lys528=)	DGKH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2514970	NM_178009.5(DGKH):c.1586C>T (p.Thr529Met)	DGKH (T393M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643791	NM_178009.5(DGKH):c.1598C>A (p.Thr533Asn)	DGKH (T288N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 764343	NM_178009.5(DGKH):c.1662C>T (p.Leu554=)	DGKH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2377145	NM_178009.5(DGKH):c.1663G>A (p.Glu555Lys)	DGKH (E310K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081919	NM_178009.5(DGKH):c.1726C>G (p.Pro576Ala)	DGKH (P440A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300379	NM_178009.5(DGKH):c.1840C>T (p.Pro614Ser)	DGKH (P369S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615252	NM_178009.5(DGKH):c.1879G>A (p.Ala627Thr)	DGKH (A382T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081921	NM_178009.5(DGKH):c.1924C>G (p.Pro642Ala)	DGKH (P642A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555574	NM_178009.5(DGKH):c.1987G>A (p.Glu663Lys)	DGKH (E527K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461486	NM_178009.5(DGKH):c.2014G>A (p.Gly672Ser)	DGKH (G427S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593954	NM_178009.5(DGKH):c.2051G>A (p.Arg684Gln)	DGKH (R439Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457229	NM_178009.5(DGKH):c.2153G>A (p.Arg718Lys)	DGKH (R473K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460529	NM_178009.5(DGKH):c.2255C>T (p.Thr752Met)	DGKH (T616M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081922	NM_178009.5(DGKH):c.2263A>G (p.Ile755Val)	DGKH (I510V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492670	NM_178009.5(DGKH):c.2308G>A (p.Val770Ile)	DGKH (V525I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618550	NM_178009.5(DGKH):c.2662A>G (p.Met888Val)	DGKH (M643V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2530393	NM_178009.5(DGKH):c.2792C>T (p.Pro931Leu)	DGKH (P931L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335437	NM_178009.5(DGKH):c.2953G>A (p.Ala985Thr)	DGKH (A849T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610926	NM_178009.5(DGKH):c.3019T>C (p.Cys1007Arg)	DGKH (C1007R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405161	NM_178009.5(DGKH):c.3316C>A (p.His1106Asn)	DGKH (H1106N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302014	NM_178009.5(DGKH):c.3337C>A (p.Pro1113Thr)	DGKH (P868T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554997	NM_178009.5(DGKH):c.3428C>T (p.Thr1143Ile)	DGKH (T898I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484739	NM_178009.5(DGKH):c.3481G>C (p.Asp1161His)	DGKH (D1161H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378840	NM_178009.5(DGKH):c.3487C>T (p.Leu1163Phe)	DGKH (L1163F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081923	NM_178009.5(DGKH):c.3491A>G (p.Asn1164Ser)	DGKH (N1164S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081924	NM_178009.5(DGKH):c.3520C>T (p.Arg1174Cys)	DGKH (R1174C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2398756	NM_178009.5(DGKH):c.3549G>C (p.Leu1183Phe)	DGKH (L1183F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2354571	NM_178009.5(DGKH):c.3550C>T (p.His1184Tyr)	DGKH (H1048Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2318552	NM_178009.5(DGKH):c.3575A>T (p.Asp1192Val)	DGKH (D1192V +2 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2461651	NM_178009.5(DGKH):c.3587C>T (p.Pro1196Leu)	DGKH (P1196L +2 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2370494	NM_178009.5(DGKH):c.3658G>A (p.Val1220Met)	DGKH (V1084M +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance

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Items: 54