"GeneDx"[submitter] AND "DHTKD1"[gene] - ClinVar

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Search results

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 2504734	NM_018706.7(DHTKD1):c.79_128del (p.Glu27fs)	DHTKD1, LOC130003343 (E27fs)	Deletion (frameshift variant)	2-aminoadipic 2-oxoadipic aciduria +1 more	GConflicting classifications of pathogenicity
Select item 1276884	NM_018706.7(DHTKD1):c.155-108T>A	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228906	NM_018706.7(DHTKD1):c.155-84T>C	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318735	NM_018706.7(DHTKD1):c.240A>C (p.Gln80His)	DHTKD1 (Q80H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 429842	NM_018706.7(DHTKD1):c.272C>T (p.Ala91Val)	DHTKD1 (A91V)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria +1 more	GUncertain significance
Select item 1239760	NM_018706.7(DHTKD1):c.310+40C>T	DHTKD1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1238316	NM_018706.7(DHTKD1):c.310+41A>C	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241653	NM_018706.7(DHTKD1):c.310+145C>A	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236009	NM_018706.7(DHTKD1):c.311-49A>T	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1691782	NC_000010.11:g.12084537C>G	DHTKD1	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 424585	NM_018706.7(DHTKD1):c.467dup (p.Thr157fs)	DHTKD1 (T157fs)	Duplication (frameshift variant)	2-aminoadipic 2-oxoadipic aciduria +1 more	GPathogenic/Likely pathogenic
Select item 847040	NM_018706.7(DHTKD1):c.488G>A (p.Arg163Gln)	DHTKD1 (R163Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1291699	NM_018706.7(DHTKD1):c.522+154G>A	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288629	NM_018706.7(DHTKD1):c.523-186C>G	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509212	NM_018706.7(DHTKD1):c.555G>A (p.Ser185=)	DHTKD1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 572993	NM_018706.7(DHTKD1):c.610G>A (p.Glu204Lys)	DHTKD1 (E204K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1169828	NM_018706.7(DHTKD1):c.951C>T (p.Asn317=)	DHTKD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 715372	NM_018706.7(DHTKD1):c.1078G>A (p.Val360Met)	DHTKD1 (V360M)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria +1 more	GConflicting classifications of pathogenicity
Select item 2136843	NM_018706.7(DHTKD1):c.1159+5G>A	DHTKD1	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 1248402	NM_018706.7(DHTKD1):c.1159+155C>T	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178264	NM_018706.7(DHTKD1):c.1160-184G>A	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 523837	NM_018706.7(DHTKD1):c.1386T>G (p.Tyr462Ter)	DHTKD1 (Y462*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1255482	NM_018706.7(DHTKD1):c.1671+35C>G	DHTKD1	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria +2 more	GBenign
Select item 2507281	NM_018706.7(DHTKD1):c.1709A>G (p.Asp570Gly)	DHTKD1 (D570G)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria +1 more	GUncertain significance
Select item 1238368	NM_018706.7(DHTKD1):c.1756+40G>T	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183201	NM_018706.7(DHTKD1):c.1756+41A>T	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261878	NM_018706.7(DHTKD1):c.1756+42G>T	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230771	NM_018706.7(DHTKD1):c.1757-180C>T	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1170352	NM_018706.7(DHTKD1):c.1821C>G (p.Ile607Met)	DHTKD1 (I607M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1268171	NM_018706.7(DHTKD1):c.1896+140G>A	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260414	NM_018706.7(DHTKD1):c.1897-126A>C	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1878895	NM_018706.7(DHTKD1):c.1999G>A (p.Asp667Asn)	DHTKD1 (D667N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 864576	NM_018706.7(DHTKD1):c.2008A>G (p.Asn670Asp)	DHTKD1 (N670D)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria +1 more	GUncertain significance
Select item 1255074	NM_018706.7(DHTKD1):c.2048-100G>T	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1168456	NM_018706.7(DHTKD1):c.2048-12G>T	DHTKD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1170355	NM_018706.7(DHTKD1):c.2079C>T (p.Ile693=)	DHTKD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1290821	NM_018706.7(DHTKD1):c.2155-66C>T	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 39564	NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)	DHTKD1 (G729R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 420289	NM_018706.7(DHTKD1):c.2318C>T (p.Pro773Leu)	DHTKD1 (P773L)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria +2 more	GUncertain significance
Select item 1009821	NM_018706.7(DHTKD1):c.2319G>A (p.Pro773=)	DHTKD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 2504998	NM_018706.7(DHTKD1):c.2319+2_2319+3insC	DHTKD1	Insertion (intron variant)	not provided	GUncertain significance
Select item 1270338	NM_018706.7(DHTKD1):c.2320-200A>C	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252136	NM_018706.7(DHTKD1):c.2320-25A>G	DHTKD1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2Q +2 more	GBenign
Select item 1279422	NM_018706.7(DHTKD1):c.2402+93_2402+118del	DHTKD1	Deletion (intron variant)	not provided	GBenign
Select item 1248593	NM_018706.7(DHTKD1):c.2402+93_2402+104del	DHTKD1	Deletion (intron variant)	not provided	GBenign
Select item 1228840	NM_018706.7(DHTKD1):c.2402+93_2402+114del	DHTKD1	Deletion (intron variant)	not provided	GBenign
Select item 1249595	NM_018706.7(DHTKD1):c.2402+109_2402+110del	DHTKD1	Deletion (intron variant)	not provided	GBenign
Select item 1283098	NM_018706.7(DHTKD1):c.2402+108_2402+109insAT	DHTKD1	Insertion (intron variant)	not provided	GBenign
Select item 1290559	NM_018706.7(DHTKD1):c.2403-217G>A	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291236	NM_018706.7(DHTKD1):c.2403-176A>G	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272965	NM_018706.7(DHTKD1):c.2403-158C>G	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271917	NM_018706.7(DHTKD1):c.2403-157C>T	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287684	NM_018706.7(DHTKD1):c.2403-152T>C	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247872	NM_018706.7(DHTKD1):c.2403-146T>C	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281678	NM_018706.7(DHTKD1):c.2403-142T>C	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280305	NM_018706.7(DHTKD1):c.2403-125C>T	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221982	NM_018706.7(DHTKD1):c.2403-116T>C	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2007939	NM_018706.7(DHTKD1):c.2432A>G (p.Lys811Arg)	DHTKD1 (K811R)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria +1 more	GUncertain significance
Select item 216917	NM_018706.7(DHTKD1):c.2500C>T (p.Arg834Ter)	DHTKD1 (R834*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1230951	NM_018706.7(DHTKD1):c.2572+156A>G	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1315891	NM_018706.7(DHTKD1):c.2585G>T (p.Ser862Ile)	DHTKD1 (S862I)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria +1 more	GUncertain significance
Select item 1286470	NM_018706.7(DHTKD1):c.2659-235A>G	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275238	NM_018706.7(DHTKD1):c.2659-226C>T	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259084	NM_018706.7(DHTKD1):c.2659-126A>G	DHTKD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 858915	NM_018706.7(DHTKD1):c.2662C>A (p.Arg888Ser)	DHTKD1 (R888S)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria +2 more	GUncertain significance
Select item 1287675	NM_018706.7(DHTKD1):c.*129C>T	DHTKD1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3359876	NM_018706.7(DHTKD1):c.790C>A (p.His264Asn)	DHTKD1 (H264N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 70