ClinVar for Gene (Select 401124) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273948	NM_001170700.3(DTHD1):c.843T>A (p.Asn281Lys)	DTHD1 (N281K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3273947	NM_001170700.3(DTHD1):c.509A>G (p.His170Arg)	DTHD1 (H170R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3273945	NM_001170700.3(DTHD1):c.1175A>C (p.Tyr392Ser)	DTHD1 (Y102S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273944	NM_001170700.3(DTHD1):c.734C>A (p.Thr245Lys)	DTHD1 (T245K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3246716	NC_000004.11:g.(?_36283635)_(36283671_?)del	DTHD1	Deletion	not provided	GUncertain significance
Select item 3086064	NM_001170700.3(DTHD1):c.976C>T (p.Arg326Trp)	DTHD1 (R36W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086063	NM_001170700.3(DTHD1):c.724A>G (p.Ile242Val)	DTHD1 (I242V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086061	NM_001170700.3(DTHD1):c.608G>T (p.Gly203Val)	DTHD1 (G203V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086060	NM_001170700.3(DTHD1):c.2647G>C (p.Glu883Gln)	DTHD1 (E593Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086059	NM_001170700.3(DTHD1):c.598C>T (p.Arg200Cys)	DTHD1 (R200C)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3086058	NM_001170700.3(DTHD1):c.587C>T (p.Ser196Leu)	DTHD1 (S196L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086057	NM_001170700.3(DTHD1):c.392C>T (p.Thr131Ile)	DTHD1 (T131I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086055	NM_001170700.3(DTHD1):c.1912T>G (p.Ser638Ala)	DTHD1 (S327A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086054	NM_001170700.3(DTHD1):c.491C>A (p.Thr164Lys)	DTHD1 (T164K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062808	GRCh37/hg19 4p15.1-14(chr4:35671613-36408967)x1	ARAP2, DTHD1	Copy number loss	not specified	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3053785	NM_001170700.3(DTHD1):c.910G>A (p.Val304Ile)	DTHD1 (V14I +1 more)	Single nucleotide variant (missense variant +1 more)	DTHD1-related disorder	GLikely benign
Select item 3039191	NM_001170700.3(DTHD1):c.501G>A (p.Glu167=)	DTHD1	Single nucleotide variant (synonymous variant +2 more)	DTHD1-related disorder	GLikely benign
Select item 3013870	NM_001170700.3(DTHD1):c.1747G>A (p.Val583Ile)	DTHD1 (V293I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3012600	NM_001170700.3(DTHD1):c.1805+10T>A	DTHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011695	NM_001170700.3(DTHD1):c.2446G>A (p.Glu816Lys)	DTHD1 (E816K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3009633	NM_001170700.3(DTHD1):c.1356C>T (p.Tyr452=)	DTHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3004217	NM_001170700.3(DTHD1):c.2398+3G>A	DTHD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2998082	NM_001170700.3(DTHD1):c.2127A>G (p.Thr709=)	DTHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2993770	NM_001170700.3(DTHD1):c.1398+19G>A	DTHD1	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2982170	NM_001170700.3(DTHD1):c.2108A>G (p.Asp703Gly)	DTHD1 (D392G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2967780	NM_001170700.3(DTHD1):c.2518A>G (p.Asn840Asp)	DTHD1 (N840D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2919334	NM_001170700.3(DTHD1):c.2341-4A>G	DTHD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2914310	NM_001170700.3(DTHD1):c.2612G>A (p.Arg871Gln)	DTHD1 (D541N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2913290	NM_001170700.3(DTHD1):c.888-16C>A	DTHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913119	NM_001170700.3(DTHD1):c.1348T>C (p.Leu450=)	DTHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2908604	NM_001170700.3(DTHD1):c.1679dup (p.Asn560fs)	DTHD1 (N249fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2899374	NM_001170700.3(DTHD1):c.2340+14C>T	DTHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2892309	NM_001170700.3(DTHD1):c.2484G>A (p.Leu828=)	DTHD1 (C498Y)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2890928	NM_001170700.3(DTHD1):c.1477C>A (p.Pro493Thr)	DTHD1 (P203T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2886980	NM_001170700.3(DTHD1):c.911_912delinsAC (p.Val304Asp)	DTHD1 (V14D +1 more)	Indel (missense variant +1 more)	not provided	GLikely benign
Select item 2882879	NM_001170700.3(DTHD1):c.1398+9A>G	DTHD1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2871551	NM_001170700.3(DTHD1):c.1219-11A>C	DTHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865432	NM_001170700.3(DTHD1):c.2399-18T>G	DTHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849087	NM_001170700.3(DTHD1):c.2403C>T (p.Ala801=)	DTHD1 (P471L)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2843035	NM_001170700.3(DTHD1):c.2416T>C (p.Leu806=)	DTHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2839722	NM_001170700.3(DTHD1):c.2346G>T (p.Lys782Asn)	DTHD1 (K492N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2833688	NM_001170700.3(DTHD1):c.1935T>A (p.His645Gln)	DTHD1 (H334Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2829652	NM_001170700.3(DTHD1):c.1324_1328del (p.Ser442fs)	DTHD1 (S442fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2824215	NM_001170700.3(DTHD1):c.2340+20T>G	DTHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820707	NM_001170700.3(DTHD1):c.2676dup (p.Val893fs)	DTHD1 (V603fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2811241	NM_001170700.3(DTHD1):c.1475G>A (p.Ser492Asn)	DTHD1 (S181N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2796828	NM_001170700.3(DTHD1):c.1158A>G (p.Ile386Met)	DTHD1 (I386M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2793166	NM_001170700.3(DTHD1):c.2500C>G (p.Gln834Glu)	DTHD1 (Q544E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2788615	NM_001170700.3(DTHD1):c.2646A>G (p.Ala882=)	DTHD1 (Q552R)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2786108	NM_001170700.3(DTHD1):c.2340+6T>A	DTHD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2783575	NM_001170700.3(DTHD1):c.1637T>A (p.Phe546Tyr)	DTHD1 (F546Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2782474	NM_001170700.3(DTHD1):c.2547C>T (p.His849=)	DTHD1 (T519M)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2762891	NM_001170700.3(DTHD1):c.1643+20T>A	DTHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2756793	NM_001170700.3(DTHD1):c.1220G>A (p.Gly407Glu)	DTHD1 (G117E +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2752572	NM_001170700.3(DTHD1):c.2462C>T (p.Ser821Phe)	DTHD1 (L491F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2729051	NM_001170700.3(DTHD1):c.1805+20T>A	DTHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2719987	NM_001170700.3(DTHD1):c.976C>A (p.Arg326=)	DTHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2711317	NM_001170700.3(DTHD1):c.1544G>A (p.Cys515Tyr)	DTHD1 (C225Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2708187	NM_001170700.3(DTHD1):c.2483T>C (p.Leu828Pro)	DTHD1 (C498R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2703828	NM_001170700.3(DTHD1):c.1928A>T (p.Asn643Ile)	DTHD1 (N332I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2698468	NM_001170700.3(DTHD1):c.2316C>A (p.Cys772Ter)	DTHD1 (C772* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2612741	NM_001170700.3(DTHD1):c.638C>T (p.Pro213Leu)	DTHD1 (P213L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2612018	NM_001170700.3(DTHD1):c.1252G>T (p.Gly418Cys)	DTHD1 (G128C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2517108	NM_001170700.3(DTHD1):c.468A>G (p.Ile156Met)	DTHD1 (I156M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2488026	NM_001170700.3(DTHD1):c.520C>A (p.Gln174Lys)	DTHD1 (Q174K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2483918	NM_001170700.3(DTHD1):c.1670C>T (p.Pro557Leu)	DTHD1 (P246L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 2428190	NM_001170700.3(DTHD1):c.2519A>G (p.Asn840Ser)	DTHD1 (N550S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2423821	NC_000004.11:g.(?_36345104)_(36345446_?)dup	DTHD1	Duplication	not provided	GUncertain significance
Select item 2423820	NC_000004.11:g.(?_36317844)_(36318128_?)del	DTHD1	Deletion	not provided	GUncertain significance
Select item 2423819	NC_000004.11:g.(?_36309806)_(36310135_?)del	DTHD1	Deletion	not provided	GUncertain significance
Select item 2415039	NM_001170700.3(DTHD1):c.1346C>A (p.Ser449Tyr)	DTHD1 (S138Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2414069	NM_001170700.3(DTHD1):c.2594A>G (p.Lys865Arg)	DTHD1 (K575R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2393466	NM_001170700.3(DTHD1):c.1147G>C (p.Val383Leu)	DTHD1 (V383L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2338191	NM_001170700.3(DTHD1):c.1930C>A (p.Pro644Thr)	DTHD1 (P333T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336822	NM_001170700.3(DTHD1):c.952T>C (p.Tyr318His)	DTHD1 (Y28H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2327085	NM_001170700.3(DTHD1):c.1564A>C (p.Asn522His)	DTHD1 (N211H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294152	NM_001170700.3(DTHD1):c.1496A>G (p.His499Arg)	DTHD1 (H188R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287716	NM_001170700.3(DTHD1):c.983T>C (p.Ile328Thr)	DTHD1 (I328T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287540	NM_001170700.3(DTHD1):c.2296C>T (p.His766Tyr)	DTHD1 (H455Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272002	NM_001170700.3(DTHD1):c.1049A>C (p.Glu350Ala)	DTHD1 (E350A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2265063	NM_001170700.3(DTHD1):c.2227G>A (p.Val743Ile)	DTHD1 (V453I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259000	NM_001170700.3(DTHD1):c.1837G>A (p.Asp613Asn)	DTHD1 (D302N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256258	NM_001170700.3(DTHD1):c.425C>G (p.Thr142Ser)	DTHD1 (T142S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2221995	NM_001170700.3(DTHD1):c.2563T>C (p.Trp855Arg)	DTHD1 (W565R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2220902	NM_001170700.3(DTHD1):c.679A>G (p.Met227Val)	DTHD1 (M227V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2203151	NM_001170700.3(DTHD1):c.1805G>A (p.Arg602Lys)	DTHD1 (R312K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2200148	NM_001170700.3(DTHD1):c.2096-9T>A	DTHD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2199829	NM_001170700.3(DTHD1):c.1699T>C (p.Leu567=)	DTHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2198864	NM_001170700.3(DTHD1):c.1399-14T>A	DTHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2194731	NM_001170700.3(DTHD1):c.1473A>G (p.Thr491=)	DTHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2179828	NM_001170700.3(DTHD1):c.1625C>A (p.Thr542Lys)	DTHD1 (T231K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2174207	NM_001170700.3(DTHD1):c.1476C>T (p.Ser492=)	DTHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2172677	NM_001170700.3(DTHD1):c.1654G>T (p.Ala552Ser)	DTHD1 (A241S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2171587	NM_001170700.3(DTHD1):c.2261C>T (p.Pro754Leu)	DTHD1 (P754L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2159773	NM_001170700.3(DTHD1):c.1339C>T (p.Arg447Ter)	DTHD1 (R157* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance

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