DCHS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 147641	GRCh38/hg38 11p15.4(chr11:6261582-6637999)x3	APBB1, ARFIP2 +41 more	Copy number gain	See cases	GPathogenic
Select item 1203506	NM_003737.4(DCHS1):c.*247CTC[1]	DCHS1	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 1194107	NM_003737.4(DCHS1):c.*175G>A	DCHS1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2878734	NM_003737.4(DCHS1):c.9885G>C (p.Glu3295Asp)	DCHS1 (E3295D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1463397	NM_003737.4(DCHS1):c.9883G>C (p.Glu3295Gln)	DCHS1 (E3295Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1923330	NM_003737.4(DCHS1):c.9882G>A (p.Thr3294=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1991233	NM_003737.4(DCHS1):c.9881C>T (p.Thr3294Met)	DCHS1 (T3294M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1595475	NM_003737.4(DCHS1):c.9879C>T (p.Asp3293=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1644481	NM_003737.4(DCHS1):c.9870A>G (p.Pro3290=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966029	NM_003737.4(DCHS1):c.9866A>T (p.Glu3289Val)	DCHS1 (E3289V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1909767	NM_003737.4(DCHS1):c.9859G>T (p.Gly3287Cys)	DCHS1 (G3287C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1631699	NM_003737.4(DCHS1):c.9850G>A (p.Ala3284Thr)	DCHS1 (A3284T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2641557	NM_003737.4(DCHS1):c.9849C>T (p.Ser3283=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2484050	NM_003737.4(DCHS1):c.9844C>G (p.Leu3282Val)	DCHS1 (L3282V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2039984	NM_003737.4(DCHS1):c.9841G>T (p.Ala3281Ser)	DCHS1 (A3281S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870710	NM_003737.4(DCHS1):c.9839C>T (p.Ser3280Leu)	DCHS1 (S3280L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 770971	NM_003737.4(DCHS1):c.9834A>G (p.Ser3278=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1518872	NM_003737.4(DCHS1):c.9824A>G (p.Gln3275Arg)	DCHS1 (Q3275R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419623	NM_003737.4(DCHS1):c.9804C>T (p.Val3268=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1507671	NM_003737.4(DCHS1):c.9799G>A (p.Val3267Ile)	DCHS1 (V3267I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1589221	NM_003737.4(DCHS1):c.9798C>T (p.Pro3266=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 764789	NM_003737.4(DCHS1):c.9797C>T (p.Pro3266Leu)	DCHS1 (P3266L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1313304	NM_003737.4(DCHS1):c.9794C>T (p.Ser3265Leu)	DCHS1 (S3265L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980445	NM_003737.4(DCHS1):c.9791G>A (p.Arg3264His)	DCHS1 (R3264H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2192581	NM_003737.4(DCHS1):c.9790C>T (p.Arg3264Cys)	DCHS1 (R3264C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1932552	NM_003737.4(DCHS1):c.9787G>A (p.Ala3263Thr)	DCHS1 (A3263T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2969513	NM_003737.4(DCHS1):c.9772C>T (p.Leu3258=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1944321	NM_003737.4(DCHS1):c.9770C>G (p.Ser3257Cys)	DCHS1 (S3257C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3080469	NM_003737.4(DCHS1):c.9766C>T (p.Pro3256Ser)	DCHS1 (P3256S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1925418	NM_003737.4(DCHS1):c.9762C>T (p.Phe3254=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1466700	NM_003737.4(DCHS1):c.9759C>G (p.Ser3253Arg)	DCHS1 (S3253R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573772	NM_003737.4(DCHS1):c.9749T>C (p.Met3250Thr)	DCHS1 (M3250T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370748	NM_003737.4(DCHS1):c.9748A>C (p.Met3250Leu)	DCHS1 (M3250L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2740999	NM_003737.4(DCHS1):c.9746C>T (p.Ala3249Val)	DCHS1 (A3249V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959697	NM_003737.4(DCHS1):c.9744_9745delinsCT (p.Ala3249Ser)	DCHS1 (A3249S)	Indel (missense variant)	not provided	GUncertain significance
Select item 2833966	NM_003737.4(DCHS1):c.9745G>C (p.Ala3249Pro)	DCHS1 (A3249P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 708137	NM_003737.4(DCHS1):c.9744T>C (p.Ala3248=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807773	NM_003737.4(DCHS1):c.9735G>C (p.Leu3245=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1468004	NM_003737.4(DCHS1):c.9728G>C (p.Gly3243Ala)	DCHS1 (G3243A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3080468	NM_003737.4(DCHS1):c.9718A>C (p.Ser3240Arg)	DCHS1 (S3240R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3017591	NM_003737.4(DCHS1):c.9713C>T (p.Pro3238Leu)	DCHS1 (P3238L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2526030	NM_003737.4(DCHS1):c.9713C>G (p.Pro3238Arg)	DCHS1 (P3238R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2871667	NM_003737.4(DCHS1):c.9711C>T (p.Ser3237=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2321432	NM_003737.4(DCHS1):c.9709T>C (p.Ser3237Pro)	DCHS1 (S3237P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1517775	NM_003737.4(DCHS1):c.9707G>A (p.Arg3236His)	DCHS1 (R3236H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1924919	NM_003737.4(DCHS1):c.9706C>T (p.Arg3236Cys)	DCHS1 (R3236C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790287	NM_003737.4(DCHS1):c.9705C>T (p.His3235=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3080467	NM_003737.4(DCHS1):c.9704A>C (p.His3235Pro)	DCHS1 (H3235P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1399061	NM_003737.4(DCHS1):c.9701C>T (p.Ser3234Phe)	DCHS1 (S3234F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1720717	NM_003737.4(DCHS1):c.9694C>G (p.Pro3232Ala)	DCHS1 (P3232A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011831	NM_003737.4(DCHS1):c.9685A>G (p.Ile3229Val)	DCHS1 (I3229V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874735	NM_003737.4(DCHS1):c.9683C>T (p.Ala3228Val)	DCHS1 (A3228V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887884	NM_003737.4(DCHS1):c.9680G>A (p.Arg3227Gln)	DCHS1 (R3227Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873745	NM_003737.4(DCHS1):c.9679C>T (p.Arg3227Trp)	DCHS1 (R3227W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1387776	NM_003737.4(DCHS1):c.9674C>A (p.Ala3225Glu)	DCHS1 (A3225E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2825019	NM_003737.4(DCHS1):c.9664A>G (p.Asn3222Asp)	DCHS1 (N3222D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2006537	NM_003737.4(DCHS1):c.9661G>A (p.Ala3221Thr)	DCHS1 (A3221T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446744	NM_003737.4(DCHS1):c.9653C>A (p.Pro3218His)	DCHS1 (P3218H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872298	NM_003737.4(DCHS1):c.9648G>A (p.Val3216=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994084	NM_003737.4(DCHS1):c.9643T>A (p.Ser3215Thr)	DCHS1 (S3215T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956416	NM_003737.4(DCHS1):c.9642G>A (p.Lys3214=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000766	NM_003737.4(DCHS1):c.9639C>G (p.Ala3213=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3237398	NM_003737.4(DCHS1):c.9629A>T (p.His3210Leu)	DCHS1 (H3210L)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 1	GUncertain significance
Select item 2972827	NM_003737.4(DCHS1):c.9621C>T (p.Ala3207=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3080465	NM_003737.4(DCHS1):c.9619G>T (p.Ala3207Ser)	DCHS1 (A3207S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1302489	NM_003737.4(DCHS1):c.9617C>T (p.Thr3206Ile)	DCHS1 (T3206I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 716807	NM_003737.4(DCHS1):c.9609C>G (p.Pro3203=)	DCHS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3032627	NM_003737.4(DCHS1):c.9597C>T (p.Ile3199=)	DCHS1	Single nucleotide variant (synonymous variant)	DCHS1-related disorder	GLikely benign
Select item 2400265	NM_003737.4(DCHS1):c.9595A>G (p.Ile3199Val)	DCHS1 (I3199V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1504192	NM_003737.4(DCHS1):c.9593G>A (p.Arg3198His)	DCHS1 (R3198H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993583	NM_003737.4(DCHS1):c.9592C>T (p.Arg3198Cys)	DCHS1 (R3198C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831324	NM_003737.4(DCHS1):c.9591C>T (p.Pro3197=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788717	NM_003737.4(DCHS1):c.9580C>T (p.Pro3194Ser)	DCHS1 (P3194S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510447	NM_003737.4(DCHS1):c.9579del (p.Pro3195fs)	DCHS1 (P3195fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2993151	NM_003737.4(DCHS1):c.9561G>A (p.Lys3187=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1209108	NM_003737.4(DCHS1):c.9558C>G (p.Leu3186=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1302092	NM_003737.4(DCHS1):c.9554G>A (p.Arg3185Gln)	DCHS1 (R3185Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2076633	NM_003737.4(DCHS1):c.9553C>T (p.Arg3185Trp)	DCHS1 (R3185W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2641558	NM_003737.4(DCHS1):c.9549C>T (p.Ile3183=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713196	NM_003737.4(DCHS1):c.9533G>A (p.Ser3178Asn)	DCHS1 (S3178N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794444	NM_003737.4(DCHS1):c.9515A>T (p.Gln3172Leu)	DCHS1 (Q3172L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1617230	NM_003737.4(DCHS1):c.9513T>C (p.Pro3171=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2091161	NM_003737.4(DCHS1):c.9509G>C (p.Cys3170Ser)	DCHS1 (C3170S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994359	NM_003737.4(DCHS1):c.9506G>A (p.Trp3169Ter)	DCHS1 (W3169*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2879231	NM_003737.4(DCHS1):c.9490G>T (p.Asp3164Tyr)	DCHS1 (D3164Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2477404	NM_003737.4(DCHS1):c.9482A>C (p.Tyr3161Ser)	DCHS1 (Y3161S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2175982	NM_003737.4(DCHS1):c.9477C>T (p.Gly3159=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1899925	NM_003737.4(DCHS1):c.9473G>A (p.Arg3158His)	DCHS1 (R3158H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1417188	NM_003737.4(DCHS1):c.9459C>T (p.Gly3153=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1944258	NM_003737.4(DCHS1):c.9457G>A (p.Gly3153Ser)	DCHS1 (G3153S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303612	NM_003737.4(DCHS1):c.9449T>C (p.Ile3150Thr)	DCHS1 (I3150T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809976	NM_003737.4(DCHS1):c.9448A>G (p.Ile3150Val)	DCHS1 (I3150V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307120	NM_003737.4(DCHS1):c.9443C>T (p.Thr3148Ile)	DCHS1 (T3148I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3271054	NM_003737.4(DCHS1):c.9442A>G (p.Thr3148Ala)	DCHS1 (T3148A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1636409	NM_003737.4(DCHS1):c.9441G>A (p.Leu3147=)	DCHS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1518772	NM_003737.4(DCHS1):c.9436G>T (p.Ala3146Ser)	DCHS1 (A3146S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499545	NM_003737.4(DCHS1):c.9434G>A (p.Gly3145Asp)	DCHS1 (G3145D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2975067	NM_003737.4(DCHS1):c.9430G>A (p.Ala3144Thr)	DCHS1 (A3144T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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