ClinVar for MedGen (Select 395350) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254560	NM_018706.7(DHTKD1):c.1042C>G (p.Leu348Val)	DHTKD1 (L348V)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 3244859	NC_000010.10:g.(?_12123451)_(12133703_?)dup	DHTKD1	Duplication	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 3244858	NC_000010.10:g.(?_12123451)_(12162887_?)dup	DHTKD1	Duplication	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 3244857	NC_000010.10:g.(?_12160728)_(12162887_?)dup	DHTKD1	Duplication	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 3244856	NC_000010.10:g.(?_12111033)_(12155083_?)dup	DHTKD1	Duplication	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 3244855	NC_000010.10:g.(?_12139663)_(12162887_?)del	DHTKD1	Deletion	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 3244854	NC_000010.10:g.(?_12123451)_(12133703_?)del	DHTKD1	Deletion	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 3244853	NC_000010.10:g.(?_12148225)_(12162887_?)del	DHTKD1	Deletion	2-aminoadipic 2-oxoadipic aciduria	GPathogenic
Select item 3244852	NC_000010.10:g.(?_12148225)_(12150034_?)del	DHTKD1	Deletion	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 3244851	NC_000010.10:g.(?_12159652)_(12159774_?)del	DHTKD1	Deletion	2-aminoadipic 2-oxoadipic aciduria	GPathogenic
Select item 3244850	NC_000010.10:g.(?_12154879)_(12155083_?)del	DHTKD1	Deletion	2-aminoadipic 2-oxoadipic aciduria	GPathogenic
Select item 3244848	NC_000010.10:g.(?_12149888)_(12150034_?)del	DHTKD1	Deletion	2-aminoadipic 2-oxoadipic aciduria	GPathogenic
Select item 3244847	NC_000010.10:g.(?_12111033)_(12162887_?)del	DHTKD1	Deletion	2-aminoadipic 2-oxoadipic aciduria	GPathogenic
Select item 3023817	NM_018706.7(DHTKD1):c.1744T>G (p.Leu582Val)	DHTKD1 (L582V)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 3022277	NM_018706.7(DHTKD1):c.718-7A>G	DHTKD1	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 3021630	NM_018706.7(DHTKD1):c.1756+22_1756+23insTCTGTTTTTTTTTTT	DHTKD1	Microsatellite (intron variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 3019765	NM_018706.7(DHTKD1):c.2047+9C>T	DHTKD1	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 3019270	NM_018706.7(DHTKD1):c.458T>G (p.Leu153Arg)	DHTKD1 (L153R)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 3018686	NM_018706.7(DHTKD1):c.1537G>C (p.Ala513Pro)	DHTKD1 (A513P)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 3018137	NM_018706.7(DHTKD1):c.2659-11T>G	DHTKD1	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 3017994	NM_018706.7(DHTKD1):c.2154+12G>A	DHTKD1	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
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 3014853	NM_018706.7(DHTKD1):c.1542G>T (p.Gln514His)	DHTKD1 (Q514H)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 3013884	NM_018706.7(DHTKD1):c.761A>G (p.Asn254Ser)	DHTKD1 (N254S)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 3012963	NM_018706.7(DHTKD1):c.2659-18_2659-16del	DHTKD1	Microsatellite (intron variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 3011107	NM_018706.7(DHTKD1):c.717+13G>T	DHTKD1	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 3010374	NM_018706.7(DHTKD1):c.522+12C>T	DHTKD1	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 3006803	NM_018706.7(DHTKD1):c.531C>T (p.Asp177=)	DHTKD1	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 3005596	NM_018706.7(DHTKD1):c.841G>A (p.Val281Met)	DHTKD1 (V281M)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 3005149	NM_018706.7(DHTKD1):c.1897-6G>C	DHTKD1	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 3001432	NM_018706.7(DHTKD1):c.2382T>C (p.Asp794=)	DHTKD1	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 3000603	NM_018706.7(DHTKD1):c.1819A>G (p.Ile607Val)	DHTKD1 (I607V)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2999769	NM_018706.7(DHTKD1):c.1790G>A (p.Gly597Asp)	DHTKD1 (G597D)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2999596	NM_018706.7(DHTKD1):c.1580C>T (p.Pro527Leu)	DHTKD1 (P527L)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2999176	NM_018706.7(DHTKD1):c.2658+7A>C	DHTKD1	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 2998981	NM_018706.7(DHTKD1):c.1756+18T>C	DHTKD1	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 2997979	NM_018706.7(DHTKD1):c.2140G>C (p.Glu714Gln)	DHTKD1 (E714Q)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2997857	NM_018706.7(DHTKD1):c.792C>T (p.His264=)	DHTKD1	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 2997509	NM_018706.7(DHTKD1):c.2032A>G (p.Thr678Ala)	DHTKD1 (T678A)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2996215	NM_018706.7(DHTKD1):c.1705C>T (p.Leu569=)	DHTKD1	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 2994421	NM_018706.7(DHTKD1):c.2575C>T (p.His859Tyr)	DHTKD1 (H859Y)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2990044	NM_018706.7(DHTKD1):c.2632A>G (p.Arg878Gly)	DHTKD1 (R878G)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2988772	NM_018706.7(DHTKD1):c.933C>T (p.Gly311=)	DHTKD1	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 2987860	NM_018706.7(DHTKD1):c.703C>T (p.Gln235Ter)	DHTKD1 (Q235*)	Single nucleotide variant (nonsense)	2-aminoadipic 2-oxoadipic aciduria	GPathogenic
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 2984958	NM_018706.7(DHTKD1):c.1793G>A (p.Arg598His)	DHTKD1 (R598H)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2984203	NM_018706.7(DHTKD1):c.963G>C (p.Pro321=)	DHTKD1	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 2984191	NM_018706.7(DHTKD1):c.2717A>G (p.His906Arg)	DHTKD1 (H906R)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2981633	NM_018706.7(DHTKD1):c.2048-18C>T	DHTKD1	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 2980905	NM_018706.7(DHTKD1):c.1159+1G>A	DHTKD1	Single nucleotide variant (splice donor variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely pathogenic
Select item 2976514	NM_018706.7(DHTKD1):c.329A>G (p.Lys110Arg)	DHTKD1 (K110R)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2975415	NM_018706.7(DHTKD1):c.953C>T (p.Ser318Leu)	DHTKD1 (S318L)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2973101	NM_018706.7(DHTKD1):c.2116C>T (p.Pro706Ser)	DHTKD1 (P706S)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2971451	NM_018706.7(DHTKD1):c.1249C>T (p.Arg417Cys)	DHTKD1 (R417C)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2970842	NM_018706.7(DHTKD1):c.2178G>C (p.Gly726=)	DHTKD1	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 2970247	NM_018706.7(DHTKD1):c.1671+3G>T	DHTKD1	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
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 2969512	NM_018706.7(DHTKD1):c.781G>A (p.Val261Ile)	DHTKD1 (V261I)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2966981	NM_018706.7(DHTKD1):c.885C>T (p.Pro295=)	DHTKD1	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 2962649	NM_018706.7(DHTKD1):c.2402+1G>A	DHTKD1	Single nucleotide variant (splice donor variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely pathogenic
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 2960423	NM_018706.7(DHTKD1):c.1896+16A>G	DHTKD1	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 2958675	NM_018706.7(DHTKD1):c.635G>A (p.Ser212Asn)	DHTKD1 (S212N)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2958667	NM_018706.7(DHTKD1):c.649G>T (p.Val217Phe)	DHTKD1 (V217F)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2957625	NM_018706.7(DHTKD1):c.1938T>A (p.Phe646Leu)	DHTKD1 (F646L)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2955974	NM_018706.7(DHTKD1):c.908G>T (p.Gly303Val)	DHTKD1 (G303V)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
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 2919804	NM_018706.7(DHTKD1):c.2378G>A (p.Gly793Asp)	DHTKD1 (G793D)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2917026	NM_018706.7(DHTKD1):c.2668G>T (p.Val890Leu)	DHTKD1 (V890L)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2916298	NM_018706.7(DHTKD1):c.637G>A (p.Gly213Arg)	DHTKD1 (G213R)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2915565	NM_018706.7(DHTKD1):c.1233G>A (p.Leu411=)	DHTKD1	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 2914986	NM_018706.7(DHTKD1):c.1950G>A (p.Met650Ile)	DHTKD1 (M650I)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2913822	NM_018706.7(DHTKD1):c.447G>A (p.Arg149=)	DHTKD1	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 2913800	NM_018706.7(DHTKD1):c.2095C>G (p.His699Asp)	DHTKD1 (H699D)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2913207	NM_018706.7(DHTKD1):c.2713G>C (p.Val905Leu)	DHTKD1 (V905L)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2910970	NM_018706.7(DHTKD1):c.907G>A (p.Gly303Ser)	DHTKD1 (G303S)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2909924	NM_018706.7(DHTKD1):c.736C>T (p.Arg246Ter)	DHTKD1 (R246*)	Single nucleotide variant (nonsense)	2-aminoadipic 2-oxoadipic aciduria	GPathogenic
Select item 2909155	NM_018706.7(DHTKD1):c.443A>G (p.Lys148Arg)	DHTKD1 (K148R)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2908284	NM_018706.7(DHTKD1):c.1926C>T (p.Ala642=)	DHTKD1	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 2904236	NM_018706.7(DHTKD1):c.377A>G (p.Tyr126Cys)	DHTKD1 (Y126C)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2903862	NM_018706.7(DHTKD1):c.1710C>A (p.Asp570Glu)	DHTKD1 (D570E)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2902329	NM_018706.7(DHTKD1):c.2296C>G (p.Pro766Ala)	DHTKD1 (P766A)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2900082	NM_018706.7(DHTKD1):c.1757-3A>T	DHTKD1	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2899047	NM_018706.7(DHTKD1):c.2279C>G (p.Pro760Arg)	DHTKD1 (P760R)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2898857	NM_018706.7(DHTKD1):c.1722G>A (p.Ala574=)	DHTKD1	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 2897793	NM_018706.7(DHTKD1):c.1512C>A (p.Asn504Lys)	DHTKD1 (N504K)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2897692	NM_018706.7(DHTKD1):c.2403G>A (p.Lys801=)	DHTKD1	Single nucleotide variant (synonymous variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2896890	NM_018706.7(DHTKD1):c.1671+9C>G	DHTKD1	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 2891776	NM_018706.7(DHTKD1):c.905G>A (p.Arg302His)	DHTKD1 (R302H)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2890485	NM_018706.7(DHTKD1):c.2166T>G (p.Ser722Arg)	DHTKD1 (S722R)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
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 2886049	NM_018706.7(DHTKD1):c.1454A>G (p.Tyr485Cys)	DHTKD1 (Y485C)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2883488	NM_018706.7(DHTKD1):c.2048-15G>A	DHTKD1	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 2883170	NM_018706.7(DHTKD1):c.2470G>A (p.Gly824Arg)	DHTKD1 (G824R)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2881928	NM_018706.7(DHTKD1):c.1452C>G (p.Tyr484Ter)	DHTKD1 (Y484*)	Single nucleotide variant (nonsense)	2-aminoadipic 2-oxoadipic aciduria	GPathogenic
Select item 2881906	NM_018706.7(DHTKD1):c.1264G>A (p.Asp422Asn)	DHTKD1 (D422N)	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 2879019	NM_018706.7(DHTKD1):c.2572+9T>C	DHTKD1	Single nucleotide variant (intron variant)	2-aminoadipic 2-oxoadipic aciduria	GLikely benign
Select item 2878468	NM_018706.7(DHTKD1):c.2572G>A (p.Asp858Asn)	DHTKD1 (D858N)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance
Select item 2876922	NM_018706.7(DHTKD1):c.509T>G (p.Met170Arg)	DHTKD1 (M170R)	Single nucleotide variant (missense variant)	2-aminoadipic 2-oxoadipic aciduria	GUncertain significance

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