DGKH[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LOC130009665, LOC130009659 +612 more	Copy number loss	See cases	GPathogenic
Select item 152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	LOC126861769, LOC126861770 +437 more	Copy number loss	See cases	GPathogenic
Select item 154825	GRCh38/hg38 13q14.11(chr13:39860568-43580405)x3	LOC130009641, LOC130009642 +141 more	Copy number gain	See cases	GUncertain significance
Select item 59890	GRCh38/hg38 13q14.11(chr13:40799505-44006174)x3	AKAP11, CCDC122 +111 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
Select item 2610138	NM_178009.5(DGKH):c.24C>G (p.His8Gln)	DGKH, LOC130009645 (H8Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283907	NM_178009.5(DGKH):c.59G>C (p.Gly20Ala)	DGKH, LOC130009645 (G20A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081918	NM_178009.5(DGKH):c.138G>C (p.Glu46Asp)	DGKH, LOC130009645 (E46D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3271727	NM_178009.5(DGKH):c.498G>C (p.Gln166His)	DGKH (Q30H +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 3271733	NM_178009.5(DGKH):c.664A>G (p.Thr222Ala)	DGKH (T86A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 3271729	NM_178009.5(DGKH):c.2009A>T (p.Asp670Val)	DGKH (D425V +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 3271732	NM_178009.5(DGKH):c.3194T>G (p.Leu1065Arg)	DGKH (L1065R +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 3271730	NM_178009.5(DGKH):c.3462G>T (p.Glu1154Asp)	DGKH (E1154D +1 more)	Single nucleotide variant (missense variant +2 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 3271731	NM_178009.5(DGKH):c.3520C>A (p.Arg1174Ser)	DGKH (R1038S +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
Select item 3063311	GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3	AKAP11, ALG11 +117 more	Copy number gain	not specified	GPathogenic
Select item 3063306	GRCh37/hg19 13q13.2-14.11(chr13:35060982-44540846)x1	AKAP11, ALG5 +42 more	Copy number loss	not specified	GUncertain significance
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	ITM2B, KBTBD6 +119 more	Copy number loss	not provided	GPathogenic
Select item 2424733	NC_000013.10:g.(?_41367363)_(43181054_?)dup	MTRF1, TNFSF11 +10 more	Duplication	not provided	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527771	GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)	KLHL1, LPAR6 +120 more	Copy number loss	not specified	GPathogenic
Select item 1527767	GRCh37/hg19 13q13.3-14.11(chr13:39428367-43608103)	AKAP11, COG6 +21 more	Copy number loss	not specified	GUncertain significance
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	SPART, SPRYD7 +147 more	Copy number loss	not specified	GPathogenic
Select item 1527762	GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)	AKAP11, ALG11 +127 more	Copy number loss	not specified	GPathogenic

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