"GeneDx"[submitter] AND "DTNA"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59958	GRCh38/hg38 18q12.1-12.3(chr18:32111530-44070219)x1	ASXL3, C18orf21 +129 more	Copy number loss	See cases	GPathogenic
Select item 59959	GRCh38/hg38 18q12.1-12.3(chr18:34047118-41394354)x1	LOC110120900, LOC110120940 +99 more	Copy number loss	See cases	GPathogenic
Select item 383523	NM_032975.4(DTNA):c.-143C>A	DTNA	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 382004	NM_032975.4(DTNA):c.-127+12G>C	DTNA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1291505	NM_032975.4(DTNA):c.-127+62G>A	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1704908	NM_032975.4(DTNA):c.-126-85981G>C	DTNA	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1252110	NM_032975.4(DTNA):c.-126-85934C>T	DTNA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1318000	NM_032975.4(DTNA):c.-126-85723C>T	DTNA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271976	NM_032975.4(DTNA):c.-126-99A>T	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 377814	NM_032975.4(DTNA):c.-21G>A	DTNA	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 137174	NM_001386795.1(DTNA):c.-41G>C	DTNA	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 389077	NM_001386795.1(DTNA):c.-2+6G>T	DTNA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1273703	NM_001386795.1(DTNA):c.-2+12T>C	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284129	NM_001386795.1(DTNA):c.-2+231GT[14]	DTNA	Microsatellite (intron variant)	not provided	GBenign
Select item 1181084	NM_001386795.1(DTNA):c.-2+231GT[15]	DTNA	Microsatellite (intron variant)	not provided	GBenign
Select item 1273441	NM_001386795.1(DTNA):c.-2+231GT[11]	DTNA	Microsatellite (intron variant)	not provided	GBenign
Select item 1247380	NM_001386795.1(DTNA):c.-2+231GT[12]	DTNA	Microsatellite (intron variant)	not provided	GBenign
Select item 1258003	NM_001386795.1(DTNA):c.-1-287A>T	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669424	NM_001386795.1(DTNA):c.-1-279A>G	DTNA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 192362	NM_001386795.1(DTNA):c.-1-25A>G	DTNA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 46425	NM_001386795.1(DTNA):c.51G>A (p.Gln17=)	DTNA	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 1 +2 more	GLikely benign
Select item 1317956	NM_001386795.1(DTNA):c.68-242C>G	DTNA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 534961	NM_001386795.1(DTNA):c.68-5A>G	DTNA	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1318256	NM_001386795.1(DTNA):c.93A>G (p.Arg31=)	DTNA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1318172	NM_001386795.1(DTNA):c.148+29A>G	DTNA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672609	NM_001386795.1(DTNA):c.148+144G>T	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683478	NM_001386795.1(DTNA):c.149-285A>T	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683479	NM_001386795.1(DTNA):c.149-265A>C	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675744	NM_001386795.1(DTNA):c.149-181T>C	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674304	NM_001386795.1(DTNA):c.149-128T>C	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 510693	NM_001386795.1(DTNA):c.149-15C>G	DTNA	Single nucleotide variant (intron variant)	Left ventricular noncompaction 1 +1 more	GLikely benign
Select item 450421	NM_001386795.1(DTNA):c.182C>G (p.Ala61Gly)	DTNA (A61G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 36029	NM_001386795.1(DTNA):c.210G>A (p.Leu70=)	DTNA	Single nucleotide variant (genic upstream transcript variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 46423	NM_001386795.1(DTNA):c.231C>T (p.Asn77=)	DTNA	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 1 +2 more	GBenign
Select item 46424	NM_001386795.1(DTNA):c.243A>G (p.Leu81=)	DTNA	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 450800	NM_001386795.1(DTNA):c.331C>T (p.Leu111Phe)	DTNA (L111F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 674343	NM_001386795.1(DTNA):c.362+129A>G	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669627	NM_001386795.1(DTNA):c.362+260T>C	DTNA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672612	NM_001386795.1(DTNA):c.363-198A>G	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290107	NM_001386795.1(DTNA):c.363-150A>G	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671294	NM_001386795.1(DTNA):c.363-102A>G	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671295	NM_001386795.1(DTNA):c.363-82C>A	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671296	NM_001386795.1(DTNA):c.363-58T>C	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 411863	NM_001386795.1(DTNA):c.371A>G (p.His124Arg)	DTNA (H124R)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1 +1 more	GUncertain significance
Select item 389076	NM_001386795.1(DTNA):c.423A>G (p.Gly141=)	DTNA	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 421562	NM_001386795.1(DTNA):c.448+17del	DTNA	Deletion (intron variant)	not specified +1 more	GLikely benign
Select item 672616	NM_001386795.1(DTNA):c.448+72T>C	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678531	NM_001386795.1(DTNA):c.448+238C>A	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675976	NM_001386795.1(DTNA):c.449-106A>G	DTNA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 390962	NM_001386795.1(DTNA):c.449-12T>C	DTNA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 326663	NM_001386795.1(DTNA):c.476G>A (p.Ser159Asn)	DTNA (S159N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 389895	NM_001386795.1(DTNA):c.537G>A (p.Thr179=)	DTNA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 46426	NM_001386795.1(DTNA):c.537G>T (p.Thr179=)	DTNA	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 1 +2 more	GBenign
Select item 672618	NM_001386795.1(DTNA):c.603+137G>A	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675745	NM_001386795.1(DTNA):c.603+167C>T	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672619	NM_001386795.1(DTNA):c.603+168A>G	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 46427	NM_001386795.1(DTNA):c.604-14G>T	DTNA	Single nucleotide variant (intron variant)	Left ventricular noncompaction 1 +2 more	GBenign
Select item 1227911	NM_001386795.1(DTNA):c.604-13T>G	DTNA	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 201765	NM_001386795.1(DTNA):c.614C>T (p.Thr205Met)	DTNA (T205M)	Single nucleotide variant (missense variant +1 more)	DTNA-related disorder +2 more	GUncertain significance
Select item 506894	NM_001386795.1(DTNA):c.615G>A (p.Thr205=)	DTNA	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 201770	NM_001386795.1(DTNA):c.646G>T (p.Asp216Tyr)	DTNA (D216Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 380723	NM_001386795.1(DTNA):c.657G>T (p.Pro219=)	DTNA	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 386495	NM_001386795.1(DTNA):c.675G>A (p.Leu225=)	DTNA	Single nucleotide variant (synonymous variant +1 more)	Left ventricular noncompaction 1 +2 more	GBenign/Likely benign
Select item 518076	NM_001386795.1(DTNA):c.708T>C (p.Asn236=)	DTNA	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 669794	NM_001386795.1(DTNA):c.709+260G>A	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683846	NM_001386795.1(DTNA):c.710-544C>T	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317718	NM_001386795.1(DTNA):c.720G>A (p.Pro240=)	DTNA	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 201766	NM_001386795.1(DTNA):c.784C>T (p.His262Tyr)	DTNA (H262Y +1 more)	Single nucleotide variant (missense variant +1 more)	Left ventricular noncompaction 1 +1 more	GUncertain significance
Select item 1272168	NM_001386795.1(DTNA):c.840T>C (p.His280=)	DTNA	Single nucleotide variant (synonymous variant +2 more)	Left ventricular noncompaction 1 +1 more	GLikely benign
Select item 426774	NM_001386795.1(DTNA):c.869C>T (p.Thr290Met)	DTNA (T290M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GUncertain significance
Select item 508642	NM_001386795.1(DTNA):c.876+16G>A	DTNA	Single nucleotide variant (5 prime UTR variant +1 more)	Left ventricular noncompaction 1 +1 more	GLikely benign
Select item 1251191	NM_001386795.1(DTNA):c.876+474C>A	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273248	NM_001386795.1(DTNA):c.876+747A>T	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678483	NM_001386795.1(DTNA):c.877-239G>T	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672620	NM_001386795.1(DTNA):c.877-169G>T	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 385345	NM_001386795.1(DTNA):c.877-8C>G	DTNA	Single nucleotide variant (intron variant)	Left ventricular noncompaction 1 +1 more	GLikely benign
Select item 46428	NM_001386795.1(DTNA):c.933C>T (p.Ser311=)	DTNA	Single nucleotide variant (synonymous variant +2 more)	Left ventricular noncompaction 1 +2 more	GBenign
Select item 426155	NM_001386795.1(DTNA):c.944C>G (p.Pro315Arg)	DTNA (P315R +1 more)	Single nucleotide variant (missense variant +2 more)	Left ventricular noncompaction 1 +2 more	GUncertain significance
Select item 191651	NM_001386795.1(DTNA):c.955A>G (p.Met319Val)	DTNA (M319V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 46429	NM_001386795.1(DTNA):c.999C>T (p.Ile333=)	DTNA	Single nucleotide variant (synonymous variant +1 more)	Left ventricular noncompaction 1 +1 more	GBenign
Select item 46410	NM_001386795.1(DTNA):c.1000G>A (p.Val334Met)	DTNA (V334I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 671297	NM_001386795.1(DTNA):c.1001+31del	DTNA	Deletion (intron variant)	not provided	GBenign
Select item 2501585	NM_001386795.1(DTNA):c.1001+125dup	DTNA	Duplication (intron variant)	not provided	GLikely benign
Select item 1317576	NM_001386795.1(DTNA):c.1002-2641_1002-2640dup	DTNA	Duplication (intron variant)	not provided	GLikely benign
Select item 1263858	NM_001386795.1(DTNA):c.1002-2640dup	DTNA	Duplication (intron variant)	not provided	GBenign
Select item 1317654	NM_001386795.1(DTNA):c.1002-2642_1002-2640del	DTNA	Deletion (intron variant)	not provided	GLikely benign
Select item 1286562	NM_001386795.1(DTNA):c.1002-2640del	DTNA	Deletion (intron variant)	not provided	GBenign
Select item 671166	NM_001386795.1(DTNA):c.1002-2635_1002-2631del	DTNA	Deletion (intron variant)	not provided	GBenign
Select item 1285699	NM_001386795.1(DTNA):c.1002-2609G>A	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675977	NM_001386795.1(DTNA):c.1002-2535A>G	DTNA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233464	NM_001386795.1(DTNA):c.1002-2520dup	DTNA	Duplication (intron variant)	not provided	GBenign
Select item 1317649	NM_001386795.1(DTNA):c.1002-2520del	DTNA	Deletion (intron variant)	not provided	GLikely benign
Select item 672650	NM_001386795.1(DTNA):c.1002-2486C>T	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672651	NM_001386795.1(DTNA):c.1002-132A>G	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 241726	NM_001386795.1(DTNA):c.1002-6T>C	DTNA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 431855	NM_001386795.1(DTNA):c.1030G>A (p.Asp344Asn)	DTNA (D344N +3 more)	Single nucleotide variant (missense variant +1 more)	Left ventricular noncompaction 1 +1 more	GUncertain significance
Select item 671849	NM_001386795.1(DTNA):c.1085+250A>G	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317702	NM_001386795.1(DTNA):c.1086-516T>A	DTNA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318223	NM_001386795.1(DTNA):c.1086-472A>G	DTNA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672652	NM_001386795.1(DTNA):c.1086-464T>C	DTNA	Single nucleotide variant (intron variant)	not provided	GBenign

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