DLST[gene] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 3043396	NM_001933.5(DLST):c.-10C>T	DLST	Single nucleotide variant (5 prime UTR variant +1 more)	DLST-related disorder	GLikely benign
Select item 3036089	NM_001933.5(DLST):c.-7C>A	DLST	Single nucleotide variant (5 prime UTR variant +1 more)	DLST-related disorder	GLikely benign
Select item 1319217	NM_001933.5(DLST):c.-6G>A	DLST	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1176329	NM_001933.5(DLST):c.-4C>G	DLST	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3082938	NM_001933.5(DLST):c.7T>C (p.Ser3Pro)	DLST (S3P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2644373	NM_001933.5(DLST):c.11G>A (p.Arg4Gln)	DLST (R4Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2714996	NM_001933.5(DLST):c.12A>G (p.Arg4=)	DLST	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2378238	NM_001933.5(DLST):c.16C>A (p.Arg6Ser)	DLST (R6S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2710412	NM_001933.5(DLST):c.36C>T (p.Phe12=)	DLST	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2464016	NM_001933.5(DLST):c.71G>A (p.Cys24Tyr)	DLST (C24Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3032362	NM_001933.5(DLST):c.74C>T (p.Pro25Leu)	DLST (P25L)	Single nucleotide variant (missense variant +1 more)	DLST-related disorder	GUncertain significance
Select item 2290012	NM_001933.5(DLST):c.111C>G (p.Cys37Trp)	DLST (C37W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2741849	NM_001933.5(DLST):c.145G>A (p.Val49Ile)	DLST (V49I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2766597	NM_001933.5(DLST):c.147-17G>A	DLST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1319216	NM_001933.5(DLST):c.147-17G>C	DLST	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2393401	NM_001933.5(DLST):c.230C>T (p.Ala77Val)	DLST (A77V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2814804	NM_001933.5(DLST):c.274+17dup	DLST	Duplication (intron variant)	not provided	GLikely benign
Select item 2814805	NM_001933.5(DLST):c.274+18A>T	DLST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009148	NM_001933.5(DLST):c.275-9T>C	DLST	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2634746	NM_001933.5(DLST):c.316A>G (p.Ile106Val)	DLST (I106V)	Single nucleotide variant (missense variant +1 more)	DLST-related disorder	GUncertain significance
Select item 2798137	NM_001933.5(DLST):c.330+19C>T	DLST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1319215	NM_001933.5(DLST):c.337G>T (p.Val113Leu)	DLST (V113L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2377805	NM_001933.5(DLST):c.356C>A (p.Ala119Glu)	DLST (A119E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337791	NM_001933.5(DLST):c.386C>T (p.Pro129Leu)	DLST (P129L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246581	NM_001933.5(DLST):c.425C>T (p.Thr142Ile)	DLST (T142I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3051680	NM_001933.5(DLST):c.440G>A (p.Gly147Asp)	DLST (G147D)	Single nucleotide variant (missense variant +1 more)	DLST-related disorder	GLikely benign
Select item 3054284	NM_001933.5(DLST):c.442+39C>G	DLST (P161A)	Single nucleotide variant (missense variant +1 more)	DLST-related disorder	GLikely benign
Select item 3337028	NM_001933.5(DLST):c.460A>G (p.Lys154Glu)	DLST (K154E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3047827	NM_001933.5(DLST):c.465G>A (p.Pro155=)	DLST	Single nucleotide variant (synonymous variant +1 more)	DLST-related disorder	GLikely benign
Select item 2550163	NM_001933.5(DLST):c.476C>T (p.Pro159Leu)	DLST (P159L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373514	NM_001933.5(DLST):c.490C>T (p.Pro164Ser)	DLST (P164S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2636917	NM_001933.5(DLST):c.512C>T (p.Ala171Val)	DLST (A171V)	Single nucleotide variant (missense variant +1 more)	DLST-related disorder	GUncertain significance
Select item 2328935	NM_001933.5(DLST):c.530C>G (p.Ala177Gly)	DLST (A177G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307415	NM_001933.5(DLST):c.556C>G (p.Pro186Ala)	DLST (P186A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3272325	NM_001933.5(DLST):c.568C>T (p.Pro190Ser)	DLST (P190S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2788063	NM_001933.5(DLST):c.576G>A (p.Gln192=)	DLST	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2564580	NM_001933.5(DLST):c.583T>C (p.Ser195Pro)	DLST (S195P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2803710	NM_001933.5(DLST):c.595+12A>G	DLST, LOC130056099	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2843141	NM_001933.5(DLST):c.611C>T (p.Pro204Leu)	DLST (P204L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2517173	NM_001933.5(DLST):c.647G>T (p.Gly216Val)	DLST (G216V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3031177	NM_001933.5(DLST):c.697C>T (p.Arg233Cys)	DLST (R233C)	Single nucleotide variant (missense variant +1 more)	DLST-related disorder	GUncertain significance
Select item 2855675	NM_001933.5(DLST):c.752T>A (p.Phe251Tyr)	DLST (F251Y)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2607759	NM_001933.5(DLST):c.766A>G (p.Met256Val)	DLST (M256V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2811659	NM_001933.5(DLST):c.771-13A>G	DLST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2788064	NM_001933.5(DLST):c.771-10A>G	DLST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 916159	NM_001933.5(DLST):c.783G>A (p.Glu261=)	DLST	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 3082937	NM_001933.5(DLST):c.791C>T (p.Ala264Val)	DLST (A264V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482605	NM_001933.5(DLST):c.863C>T (p.Ser288Leu)	DLST (S288L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2698833	NM_001933.5(DLST):c.883C>G (p.Gln295Glu)	DLST (Q295E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2808485	NM_001933.5(DLST):c.902-19T>C	DLST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2440812	NM_001933.5(DLST):c.911A>G (p.Asp304Gly)	DLST (D304G)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 7	GUncertain significance
Select item 1319214	NM_001933.5(DLST):c.976-7C>G	DLST	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 794571	NM_001933.5(DLST):c.976-6C>T	DLST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3272324	NM_001933.5(DLST):c.982G>A (p.Val328Met)	DLST (V328M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3337029	NM_001933.5(DLST):c.1008A>C (p.Glu336Asp)	DLST (E336D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2364987	NM_001933.5(DLST):c.1033C>T (p.Arg345Trp)	DLST (R345W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3337031	NM_001933.5(DLST):c.1037C>T (p.Thr346Ile)	DLST (T346I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2279490	NM_001933.5(DLST):c.1042A>G (p.Thr348Ala)	DLST (T348A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478194	NM_001933.5(DLST):c.1056G>C (p.Glu352Asp)	DLST (E352D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2696966	NM_001933.5(DLST):c.1059+14A>G	DLST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1684683	NM_001933.5(DLST):c.1081A>G (p.Ile361Val)	DLST (I361V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2788065	NM_001933.5(DLST):c.1098C>T (p.Gly366=)	DLST	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 635133	NM_001933.5(DLST):c.1121G>A (p.Gly374Glu)	DLST (G374E)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 7	GPathogenic
Select item 2258450	NM_001933.5(DLST):c.1238G>A (p.Arg413Gln)	DLST (R413Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2637941	NM_001933.5(DLST):c.1307T>A (p.Leu436His)	DLST (L436H)	Single nucleotide variant (missense variant +1 more)	Oxoglutaricaciduria	GUncertain significance
Select item 2217142	NM_001933.5(DLST):c.1309C>T (p.Arg437Cys)	DLST (R437C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204102	NM_001933.5(DLST):c.1343T>C (p.Val448Ala)	DLST (V448A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465419	NM_001933.5(DLST):c.1345C>G (p.Leu449Val)	DLST (L449V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685494	GRCh37/hg19 14q24.3(chr14:74883763-77219310)x1	NPC2, PGF +25 more	Copy number loss	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 1808281	GRCh37/hg19 14q24.3(chr14:75353951-75424406)x1	DLST, PGF +1 more	Copy number loss	not provided	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 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 815672	GRCh37/hg19 14q24.3(chr14:75205276-75507538)x3	MLH3, YLPM1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 625564	GRCh37/hg19 14q24.3(chr14:74040231-76368547)	ABCD4, ACOT2 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 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 208506	GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	ACOT6, ACYP1 +59 more	Deletion	Multiple skeletal anomalies +3 more	GLikely pathogenic

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Items: 85