DHTKD1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
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 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	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 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 147372	GRCh38/hg38 10p14-13(chr10:11712990-12319959)x3	CDC123, DHTKD1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 149272	GRCh38/hg38 10p14(chr10:11738467-12180308)x1	DHTKD1, ECHDC3 +27 more	Copy number loss	See cases	GUncertain significance
Select item 153200	GRCh38/hg38 10p14(chr10:12051410-12116236)x3	DHTKD1, LOC130003342 +3 more	Copy number gain	See cases	GLikely benign
Select item 647961	NC_000010.10:g.(?_12111013)_(12162907_?)dup	DHTKD1, LOC130003342 +3 more	Duplication	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 39563	NM_018706.7(DHTKD1):c.1A>G (p.Met1Val)	DHTKD1 (M1V)	Single nucleotide variant (missense variant +1 more)	2-aminoadipic 2-oxoadipic aciduria +1 more	GConflicting classifications of pathogenicity
Select item 2709534	NM_018706.7(DHTKD1):c.2T>G (p.Met1Arg)	DHTKD1 (M1R)	Single nucleotide variant (missense variant +1 more)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 1163325	NM_018706.7(DHTKD1):c.8C>G (p.Ser3Cys)	DHTKD1 (S3C)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria +1 more	GUncertain significance
Select item 1013563	NM_018706.7(DHTKD1):c.9T>A (p.Ser3=)	DHTKD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1426935	NM_018706.7(DHTKD1):c.22G>A (p.Ala8Thr)	DHTKD1 (A8T)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 719446	NM_018706.7(DHTKD1):c.33G>A (p.Arg11=)	DHTKD1	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria +1 more	GLikely benign
Select item 1621076	NM_018706.7(DHTKD1):c.36C>A (p.Gly12=)	DHTKD1	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 2065832	NM_018706.7(DHTKD1):c.40G>T (p.Gly14Cys)	DHTKD1 (G14C)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2043746	NM_018706.7(DHTKD1):c.40G>C (p.Gly14Arg)	DHTKD1 (G14R)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria +1 more	GUncertain significance
Select item 1949907	NM_018706.7(DHTKD1):c.41G>C (p.Gly14Ala)	DHTKD1 (G14A)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 1722084	NM_018706.7(DHTKD1):c.46G>A (p.Ala16Thr)	DHTKD1 (A16T)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2840809	NM_018706.7(DHTKD1):c.49C>T (p.Leu17Phe)	DHTKD1 (L17F)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2416425	NM_018706.7(DHTKD1):c.52C>T (p.Pro18Ser)	DHTKD1 (P18S)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 3271842	NM_018706.7(DHTKD1):c.55C>G (p.Leu19Val)	DHTKD1 (L19V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3030141	NM_018706.7(DHTKD1):c.57C>T (p.Leu19=)	DHTKD1	Single nucleotide variant (synonymous variant)	DHTKD1-related disorder	GLikely benign
Select item 1168371	NM_018706.7(DHTKD1):c.58T>C (p.Phe20Leu)	DHTKD1 (F20L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 774778	NM_018706.7(DHTKD1):c.58= (p.Phe20=)	DHTKD1	Variation (no sequence alteration)	2-aminoadipic 2-oxoadipic aciduria	GBenign
Select item 3065789	NM_018706.7(DHTKD1):c.63G>T (p.Trp21Cys)	DHTKD1 (W21C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2Q	GUncertain significance
Select item 1443503	NM_018706.7(DHTKD1):c.64C>A (p.Arg22Ser)	DHTKD1 (R22S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029713	NM_018706.7(DHTKD1):c.71A>G (p.Tyr24Cys)	DHTKD1 (Y24C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1978750	NM_018706.7(DHTKD1):c.94G>A (p.Gly32Ser)	DHTKD1 (G32S)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 1523412	NM_018706.7(DHTKD1):c.100C>A (p.Arg34=)	DHTKD1, LOC130003343	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 737518	NM_018706.7(DHTKD1):c.102G>A (p.Arg34=)	DHTKD1, LOC130003343	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 587471	NM_018706.7(DHTKD1):c.104C>T (p.Pro35Leu)	DHTKD1, LOC130003343 (P35L)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria +2 more	GUncertain significance
Select item 2169070	NM_018706.7(DHTKD1):c.113C>G (p.Pro38Arg)	DHTKD1, LOC130003343 (P38R)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2177244	NM_018706.7(DHTKD1):c.114C>T (p.Pro38=)	DHTKD1, LOC130003343	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 1384324	NM_018706.7(DHTKD1):c.115G>A (p.Glu39Lys)	DHTKD1, LOC130003343 (E39K)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2009044	NM_018706.7(DHTKD1):c.116A>G (p.Glu39Gly)	DHTKD1, LOC130003343 (E39G)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2762240	NM_018706.7(DHTKD1):c.124G>A (p.Glu42Lys)	DHTKD1, LOC130003343 (E42K)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 750559	NM_018706.7(DHTKD1):c.126G>A (p.Glu42=)	DHTKD1, LOC130003343	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1163326	NM_018706.7(DHTKD1):c.127C>A (p.Pro43Thr)	DHTKD1, LOC130003343 (P43T)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria +1 more	GUncertain significance
Select item 1378183	NM_018706.7(DHTKD1):c.128C>G (p.Pro43Arg)	DHTKD1, LOC130003343 (P43R)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 796940	NM_018706.7(DHTKD1):c.135C>A (p.Gly45=)	DHTKD1, LOC130003343	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792962	NM_018706.7(DHTKD1):c.151C>G (p.Pro51Ala)	DHTKD1, LOC130003343 (P51A)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 1964940	NM_018706.7(DHTKD1):c.152C>A (p.Pro51Gln)	DHTKD1, LOC130003343 (P51Q)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2881306	NM_018706.7(DHTKD1):c.153A>T (p.Pro51=)	DHTKD1, LOC130003343	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2818850	NM_018706.7(DHTKD1):c.154G>A (p.Val52Ile)	DHTKD1, LOC130003343 (V52I)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2408969	NM_018706.7(DHTKD1):c.154+2T>G	DHTKD1, LOC130003343	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 2819166	NM_018706.7(DHTKD1):c.154+6G>T	DHTKD1, LOC130003343	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 1932712	NM_018706.7(DHTKD1):c.154+8A>G	DHTKD1, LOC130003343	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2086801	NM_018706.7(DHTKD1):c.154+15C>T	DHTKD1, LOC130003343	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 1939198	NM_018706.7(DHTKD1):c.154+18G>A	DHTKD1, LOC130003343	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 1568845	NM_018706.7(DHTKD1):c.154+19G>A	DHTKD1, LOC130003343	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 1573756	NM_018706.7(DHTKD1):c.154+20C>A	DHTKD1, LOC130003343	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
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 1622315	NM_018706.7(DHTKD1):c.155-20T>A	DHTKD1	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 1487636	NM_018706.7(DHTKD1):c.155-17A>G	DHTKD1	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 3017503	NM_018706.7(DHTKD1):c.155-11C>T	DHTKD1	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 1298476	NM_018706.7(DHTKD1):c.155-1G>T	DHTKD1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1717369	NM_018706.7(DHTKD1):c.155T>C (p.Val52Ala)	DHTKD1 (V52A)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 748075	NM_018706.7(DHTKD1):c.156T>C (p.Val52=)	DHTKD1	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 2094313	NM_018706.7(DHTKD1):c.160C>T (p.His54Tyr)	DHTKD1 (H54Y)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2780953	NM_018706.7(DHTKD1):c.163G>A (p.Gly55Ser)	DHTKD1 (G55S)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 1421380	NM_018706.7(DHTKD1):c.186dup (p.Tyr63fs)	DHTKD1 (Y63fs)	Duplication (frameshift variant)	2-aminoadipic 2-oxoadipic aciduria	GPathogenic
Select item 1494980	NM_018706.7(DHTKD1):c.188A>T (p.Tyr63Phe)	DHTKD1 (Y63F)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2791129	NM_018706.7(DHTKD1):c.190T>C (p.Cys64Arg)	DHTKD1 (C64R)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2813010	NM_018706.7(DHTKD1):c.193G>C (p.Glu65Gln)	DHTKD1 (E65Q)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 1936267	NM_018706.7(DHTKD1):c.199_203del (p.His66_Gly67insTer)	DHTKD1	Deletion (nonsense)	2-aminoadipic 2-oxoadipic aciduria	GPathogenic
Select item 2720146	NM_018706.7(DHTKD1):c.209C>A (p.Ala70Asp)	DHTKD1 (A70D)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 774680	NM_018706.7(DHTKD1):c.209C>G (p.Ala70Gly)	DHTKD1 (A70G)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2954700	NM_018706.7(DHTKD1):c.212C>T (p.Ala71Val)	DHTKD1 (A71V)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2196675	NM_018706.7(DHTKD1):c.227T>C (p.Leu76Pro)	DHTKD1 (L76P)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 1424161	NM_018706.7(DHTKD1):c.229T>G (p.Phe77Val)	DHTKD1 (F77V)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2440761	NM_018706.7(DHTKD1):c.232A>G (p.Thr78Ala)	DHTKD1 (T78A)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria +1 more	GUncertain significance
Select item 716684	NM_018706.7(DHTKD1):c.234C>T (p.Thr78=)	DHTKD1	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria	GBenign
Select item 2147147	NM_018706.7(DHTKD1):c.235G>A (p.Gly79Arg)	DHTKD1 (G79R)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2823734	NM_018706.7(DHTKD1):c.239A>C (p.Gln80Pro)	DHTKD1 (Q80P)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
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 1925011	NM_018706.7(DHTKD1):c.241G>A (p.Ala81Thr)	DHTKD1 (A81T)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 1627659	NM_018706.7(DHTKD1):c.243C>T (p.Ala81=)	DHTKD1	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 2726635	NM_018706.7(DHTKD1):c.252G>C (p.Glu84Asp)	DHTKD1 (E84D)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 1550440	NM_018706.7(DHTKD1):c.255T>C (p.Asn85=)	DHTKD1	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 2887095	NM_018706.7(DHTKD1):c.258G>A (p.Val86=)	DHTKD1	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 2089987	NM_018706.7(DHTKD1):c.258G>T (p.Val86=)	DHTKD1	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 2969571	NM_018706.7(DHTKD1):c.259C>T (p.Pro87Ser)	DHTKD1 (P87S)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	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 2570765	NM_018706.7(DHTKD1):c.278T>C (p.Val93Ala)	DHTKD1 (V93A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986735	NM_018706.7(DHTKD1):c.279G>A (p.Val93=)	DHTKD1	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 2962582	NM_018706.7(DHTKD1):c.287T>C (p.Leu96Pro)	DHTKD1 (L96P)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2758830	NM_018706.7(DHTKD1):c.289C>A (p.Gln97Lys)	DHTKD1 (Q97K)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 1588958	NM_018706.7(DHTKD1):c.294A>C (p.Gly98=)	DHTKD1	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 3271835	NM_018706.7(DHTKD1):c.304A>G (p.Thr102Ala)	DHTKD1 (T102A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520869	NM_018706.7(DHTKD1):c.305C>T (p.Thr102Met)	DHTKD1 (T102M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1417471	NM_018706.7(DHTKD1):c.306G>A (p.Thr102=)	DHTKD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 806435	NM_018706.7(DHTKD1):c.307G>T (p.Ala103Ser)	DHTKD1 (A103S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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