30676[HGNC] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 57309	GRCh38/hg38 4q12(chr4:51870025-55102392)x1	CHIC2, DANCR +65 more	Copy number loss	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	See cases	GPathogenic
Select item 59423	GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	AASDH, ARL9 +136 more	Copy number loss	See cases	GPathogenic
Select item 2492863	NM_152540.4(SCFD2):c.1861A>G (p.Ser621Gly)	SCFD2 (S621G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307455	NM_152540.4(SCFD2):c.1858C>T (p.Pro620Ser)	SCFD2 (P620S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598437	NM_152540.4(SCFD2):c.1853C>A (p.Pro618His)	SCFD2 (P618H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404854	NM_152540.4(SCFD2):c.1850G>A (p.Arg617Gln)	SCFD2 (R617Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259151	NM_152540.4(SCFD2):c.1849C>T (p.Arg617Trp)	SCFD2 (R617W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249634	NM_152540.4(SCFD2):c.1774G>A (p.Val592Ile)	SCFD2 (V592I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2328222	NM_152540.4(SCFD2):c.1757C>T (p.Pro586Leu)	SCFD2 (P586L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294953	NM_152540.4(SCFD2):c.1715A>G (p.Tyr572Cys)	SCFD2 (Y572C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316444	NM_152540.4(SCFD2):c.1634G>A (p.Arg545Gln)	SCFD2 (R545Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485574	NM_152540.4(SCFD2):c.1538C>T (p.Ser513Leu)	SCFD2 (S513L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316450	NM_152540.4(SCFD2):c.1444A>C (p.Thr482Pro)	SCFD2 (T482P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530646	NM_152540.4(SCFD2):c.1428A>G (p.Ile476Met)	SCFD2 (I476M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295704	NM_152540.4(SCFD2):c.1352T>A (p.Leu451Gln)	SCFD2 (L451Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158379	NM_152540.4(SCFD2):c.1330A>T (p.Met444Leu)	SCFD2 (M444L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316445	NM_152540.4(SCFD2):c.1316T>C (p.Ile439Thr)	SCFD2 (I439T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548475	NM_152540.4(SCFD2):c.1280A>G (p.Asn427Ser)	SCFD2 (N427S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158378	NM_152540.4(SCFD2):c.1247C>G (p.Thr416Arg)	SCFD2 (T416R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319391	NM_152540.4(SCFD2):c.1207C>T (p.His403Tyr)	SCFD2 (H403Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158377	NM_152540.4(SCFD2):c.1196C>G (p.Ala399Gly)	SCFD2 (A399G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517957	NM_152540.4(SCFD2):c.1189C>T (p.Leu397Phe)	SCFD2 (L397F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609118	NM_152540.4(SCFD2):c.1168A>G (p.Ile390Val)	SCFD2 (I390V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158376	NM_152540.4(SCFD2):c.1151G>A (p.Gly384Glu)	SCFD2 (G384E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2571617	NM_152540.4(SCFD2):c.1148C>T (p.Pro383Leu)	SCFD2 (P383L)	Single nucleotide variant (missense variant)	Autism, susceptiblity to	GLikely pathogenic
Select item 2531789	NM_152540.4(SCFD2):c.1097C>T (p.Ala366Val)	SCFD2 (A366V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316447	NM_152540.4(SCFD2):c.1040T>C (p.Leu347Ser)	SCFD2 (L347S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158375	NM_152540.4(SCFD2):c.1036G>A (p.Ala346Thr)	SCFD2 (A346T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316446	NM_152540.4(SCFD2):c.1008T>C (p.Ser336=)	SCFD2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2569890	NM_152540.4(SCFD2):c.983C>T (p.Ala328Val)	SCFD2 (A328V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314425	NM_152540.4(SCFD2):c.961G>A (p.Glu321Lys)	SCFD2 (E321K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599282	NM_152540.4(SCFD2):c.950T>G (p.Leu317Arg)	SCFD2 (L317R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300640	NM_152540.4(SCFD2):c.947C>T (p.Ala316Val)	SCFD2 (A316V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381278	NM_152540.4(SCFD2):c.922A>G (p.Met308Val)	SCFD2 (M308V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316448	NM_152540.4(SCFD2):c.914A>C (p.Asn305Thr)	SCFD2 (N305T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343164	NM_152540.4(SCFD2):c.853C>A (p.His285Asn)	SCFD2 (H285N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158386	NM_152540.4(SCFD2):c.845T>C (p.Val282Ala)	SCFD2 (V282A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552013	NM_152540.4(SCFD2):c.805G>T (p.Val269Leu)	SCFD2 (V269L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158385	NM_152540.4(SCFD2):c.767C>T (p.Ala256Val)	SCFD2 (A256V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495120	NM_152540.4(SCFD2):c.766G>A (p.Ala256Thr)	SCFD2 (A256T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480551	NM_152540.4(SCFD2):c.694G>C (p.Val232Leu)	SCFD2 (V232L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158383	NM_152540.4(SCFD2):c.685C>T (p.His229Tyr)	SCFD2 (H229Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158382	NM_152540.4(SCFD2):c.588G>T (p.Lys196Asn)	SCFD2 (K196N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315729	NM_152540.4(SCFD2):c.400G>C (p.Glu134Gln)	SCFD2 (E134Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158381	NM_152540.4(SCFD2):c.394G>A (p.Val132Met)	SCFD2 (V132M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284889	NM_152540.4(SCFD2):c.226G>A (p.Val76Met)	SCFD2 (V76M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158380	NM_152540.4(SCFD2):c.211C>A (p.Pro71Thr)	SCFD2 (P71T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365441	NM_152540.4(SCFD2):c.143C>A (p.Ala48Glu)	LOC129992599, SCFD2 (A48E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158384	NM_152540.4(SCFD2):c.68G>C (p.Arg23Pro)	LOC129992599, SCFD2 (R23P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360733	NM_152540.4(SCFD2):c.67C>T (p.Arg23Trp)	LOC129992599, SCFD2 (R23W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062751	GRCh37/hg19 4q12(chr4:54207767-54741991)x3	FIP1L1, LNX1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685967	GRCh37/hg19 4q11-12(chr4:52685980-54252935)x3	DANCR, DCUN1D4 +10 more	Copy number gain	not provided	GUncertain significance
Select item 2685108	GRCh37/hg19 4q11-13.1(chr4:52685685-61903883)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 1809499	GRCh37/hg19 4q12(chr4:53434611-54079547)x3	DANCR, ERVMER34-1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1809000	GRCh37/hg19 4q12(chr4:53098544-53949065)x1	DANCR, ERVMER34-1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1808462	GRCh37/hg19 4q11-12(chr4:52685980-59272025)x3	AASDH, ARL9 +36 more	Copy number gain	not provided	GUncertain significance
Select item 1808351	GRCh37/hg19 4q12(chr4:54169393-54283313)x1	FIP1L1, SCFD2	Copy number loss	not provided	GUncertain significance
Select item 1808350	GRCh37/hg19 4q12(chr4:53715514-53925549)x1	RASL11B, SCFD2	Copy number loss	not provided	GUncertain significance
Select item 1808055	GRCh37/hg19 4q12(chr4:54228585-54361640)x1	FIP1L1, LNX1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1703552	GRCh37/hg19 4q12(chr4:53688710-56491447)	CHIC2, CLOCK +12 more	Copy number loss	Piebaldism	GPathogenic
Select item 1527088	GRCh37/hg19 4q12(chr4:54027934-54386267)	FIP1L1, LNX1 +1 more	Copy number loss	not specified	GUncertain significance
Select item 1527087	GRCh37/hg19 4q12(chr4:53435144-54091178)	DANCR, ERVMER34-1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1527086	GRCh37/hg19 4q12(chr4:53091609-53953124)	DANCR, ERVMER34-1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1340920	GRCh37/hg19 4q11-12(chr4:52685685-58104722)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 814553	GRCh37/hg19 4q12(chr4:54139333-54203666)x1	SCFD2	Copy number loss	not provided	GUncertain significance
Select item 814552	GRCh37/hg19 4q12(chr4:53688710-54741991)x3	SCFD2, FIP1L1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687293	GRCh37/hg19 4q11-12(chr4:52685685-54040923)x3	DANCR, DCUN1D4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 686668	GRCh37/hg19 4q12(chr4:53926759-54031101)x1	SCFD2	Copy number loss	not provided	GUncertain significance
Select item 562913	GRCh37/hg19 4q12(chr4:53961609-54067101)x1	SCFD2	Copy number loss	not provided	GUncertain significance
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

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Items: 81