ClinVar for Gene (Select 57482) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3077142	NM_001393381.1(CRACD):c.979G>T (p.Ala327Ser)	CRACD (A269S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077141	NM_001393381.1(CRACD):c.914G>C (p.Arg305Pro)	CRACD (R247P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077140	NM_001393381.1(CRACD):c.907G>A (p.Ala303Thr)	CRACD (A303T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077139	NM_001393381.1(CRACD):c.811G>C (p.Glu271Gln)	CRACD (E271Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077138	NM_001393381.1(CRACD):c.806T>G (p.Leu269Arg)	CRACD (L211R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077137	NM_001393381.1(CRACD):c.794G>A (p.Arg265Lys)	CRACD (R207K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077136	NM_001393381.1(CRACD):c.604G>A (p.Glu202Lys)	CRACD (E202K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077135	NM_001393381.1(CRACD):c.58A>G (p.Ser20Gly)	CRACD (S20G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077134	NM_001393381.1(CRACD):c.585C>A (p.Asp195Glu)	CRACD (D137E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077132	NM_001393381.1(CRACD):c.452G>A (p.Arg151His)	CRACD (R93H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077131	NM_001393381.1(CRACD):c.451C>T (p.Arg151Cys)	CRACD (R151C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077130	NM_001393381.1(CRACD):c.395C>T (p.Ser132Phe)	CRACD (S74F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077129	NM_001393381.1(CRACD):c.376C>T (p.Arg126Trp)	CRACD (R126W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077128	NM_001393381.1(CRACD):c.3569C>T (p.Ala1190Val)	CRACD (A1190V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077127	NM_001393381.1(CRACD):c.3535G>A (p.Val1179Met)	CRACD (V1179M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077126	NM_001393381.1(CRACD):c.3530C>T (p.Thr1177Met)	CRACD (T1177M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077125	NM_001393381.1(CRACD):c.3433C>G (p.His1145Asp)	CRACD (H1145D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077124	NM_001393381.1(CRACD):c.3352C>G (p.Gln1118Glu)	CRACD (Q1060E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077123	NM_001393381.1(CRACD):c.3347C>A (p.Ala1116Asp)	CRACD (A1058D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077122	NM_001393381.1(CRACD):c.3317C>T (p.Thr1106Met)	CRACD (T1106M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077121	NM_001393381.1(CRACD):c.3314C>T (p.Ala1105Val)	CRACD (A1047V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077120	NM_001393381.1(CRACD):c.3272C>T (p.Thr1091Met)	CRACD (T1091M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077119	NM_001393381.1(CRACD):c.3194C>T (p.Pro1065Leu)	CRACD (P1007L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077118	NM_001393381.1(CRACD):c.3112A>G (p.Arg1038Gly)	CRACD (R1038G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077117	NM_001393381.1(CRACD):c.296C>T (p.Thr99Met)	CRACD, LOC126807059 (T99M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077116	NM_001393381.1(CRACD):c.2923T>C (p.Ser975Pro)	CRACD (S917P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077115	NM_001393381.1(CRACD):c.2870T>A (p.Leu957Gln)	CRACD (L957Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077114	NM_001393381.1(CRACD):c.2852C>T (p.Ala951Val)	CRACD (A893V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077113	NM_001393381.1(CRACD):c.280A>G (p.Asn94Asp)	CRACD (N36D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077112	NM_001393381.1(CRACD):c.2780G>T (p.Arg927Leu)	CRACD (R927L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077111	NM_001393381.1(CRACD):c.2775C>A (p.Ser925Arg)	CRACD (S925R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077110	NM_001393381.1(CRACD):c.2708G>A (p.Gly903Asp)	CRACD (G903D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077109	NM_001393381.1(CRACD):c.2689G>C (p.Gly897Arg)	CRACD (G897R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077107	NM_001393381.1(CRACD):c.2680G>C (p.Glu894Gln)	CRACD (E894Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077106	NM_001393381.1(CRACD):c.2668C>G (p.Arg890Gly)	CRACD (R832G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077105	NM_001393381.1(CRACD):c.2648C>A (p.Pro883Gln)	CRACD (P883Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077104	NM_001393381.1(CRACD):c.259A>G (p.Ile87Val)	CRACD (I87V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077103	NM_001393381.1(CRACD):c.2393T>G (p.Phe798Cys)	CRACD (F740C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077102	NM_001393381.1(CRACD):c.2293G>A (p.Gly765Ser)	CRACD (G707S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077101	NM_001393381.1(CRACD):c.2081G>A (p.Gly694Asp)	CRACD (G636D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077100	NM_001393381.1(CRACD):c.2064G>C (p.Arg688Ser)	CRACD (R630S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077099	NM_001393381.1(CRACD):c.2038G>A (p.Glu680Lys)	CRACD (E622K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077098	NM_001393381.1(CRACD):c.1961C>G (p.Pro654Arg)	CRACD (P654R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077097	NM_001393381.1(CRACD):c.1948G>A (p.Gly650Arg)	CRACD (G650R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077096	NM_001393381.1(CRACD):c.1871T>C (p.Leu624Ser)	CRACD (L566S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077095	NM_001393381.1(CRACD):c.184G>A (p.Ala62Thr)	CRACD (A4T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077094	NM_001393381.1(CRACD):c.1807C>T (p.Leu603Phe)	CRACD (L603F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077093	NM_001393381.1(CRACD):c.1805A>C (p.Gln602Pro)	CRACD (Q544P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077092	NM_001393381.1(CRACD):c.1736G>A (p.Ser579Asn)	CRACD (S521N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077091	NM_001393381.1(CRACD):c.1712A>G (p.Gln571Arg)	CRACD (Q571R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077090	NM_001393381.1(CRACD):c.1681G>A (p.Ala561Thr)	CRACD (A561T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077089	NM_001393381.1(CRACD):c.1577A>T (p.Glu526Val)	CRACD (E468V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077088	NM_001393381.1(CRACD):c.155G>A (p.Arg52Gln)	CRACD (R52Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077087	NM_001393381.1(CRACD):c.1336G>C (p.Glu446Gln)	CRACD (E388Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077086	NM_001393381.1(CRACD):c.1304G>C (p.Arg435Pro)	CRACD (R435P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077085	NM_001393381.1(CRACD):c.1237G>C (p.Glu413Gln)	CRACD (E413Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077084	NM_001393381.1(CRACD):c.1223G>A (p.Gly408Asp)	CRACD (G408D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077083	NM_001393381.1(CRACD):c.1202T>C (p.Leu401Pro)	CRACD (L343P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077082	NM_001393381.1(CRACD):c.11G>A (p.Arg4Gln)	CRACD (R4Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077081	NM_001393381.1(CRACD):c.1130C>T (p.Ala377Val)	CRACD (A377V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077080	NM_001393381.1(CRACD):c.110A>G (p.Lys37Arg)	CRACD (K37R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077079	NM_001393381.1(CRACD):c.10C>G (p.Arg4Gly)	CRACD (R4G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685108	GRCh37/hg19 4q11-13.1(chr4:52685685-61903883)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 2620972	NM_001393381.1(CRACD):c.929A>C (p.Glu310Ala)	CRACD (E252A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616226	NM_001393381.1(CRACD):c.3352C>A (p.Gln1118Lys)	CRACD (Q1060K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614762	NM_001393381.1(CRACD):c.863G>C (p.Arg288Pro)	CRACD (R230P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598177	NM_001393381.1(CRACD):c.1007A>C (p.Glu336Ala)	CRACD (E336A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594197	NM_001393381.1(CRACD):c.673G>C (p.Glu225Gln)	CRACD (E225Q +1 more)	Single nucleotide variant (missense variant)	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 2558143	NM_001393381.1(CRACD):c.7A>G (p.Thr3Ala)	CRACD (T3A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548617	NM_001393381.1(CRACD):c.2947C>A (p.Pro983Thr)	CRACD (P925T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543890	NM_001393381.1(CRACD):c.2461G>C (p.Asp821His)	CRACD (D821H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538050	NM_001393381.1(CRACD):c.553C>G (p.Gln185Glu)	CRACD (Q127E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532551	NM_001393381.1(CRACD):c.514A>G (p.Lys172Glu)	CRACD (K114E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531898	NM_001393381.1(CRACD):c.2250G>T (p.Met750Ile)	CRACD (M692I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495174	NM_001393381.1(CRACD):c.1816C>G (p.Pro606Ala)	CRACD (P606A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487403	NM_001393381.1(CRACD):c.848C>T (p.Ala283Val)	CRACD (A225V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472628	NM_001393381.1(CRACD):c.2891C>T (p.Ala964Val)	CRACD (A964V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471845	NM_001393381.1(CRACD):c.1025A>G (p.Glu342Gly)	CRACD (E342G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463045	NM_001393381.1(CRACD):c.2105G>A (p.Arg702Gln)	CRACD (R644Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459165	NM_001393381.1(CRACD):c.2837C>T (p.Pro946Leu)	CRACD (P888L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455085	NM_001393381.1(CRACD):c.971A>G (p.Gln324Arg)	CRACD (Q324R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426476	NC_000004.11:g.(?_55124936)_(57368027_?)del	AASDH, CEP135 +13 more	Deletion	not provided	GPathogenic
Select item 1808462	GRCh37/hg19 4q11-12(chr4:52685980-59272025)x3	AASDH, ARL9 +36 more	Copy number gain	not provided	GUncertain significance
Select item 1527089	GRCh37/hg19 4q12(chr4:56946533-57046730)	CRACD	Copy number loss	not specified	GUncertain significance
Select item 1433363	NC_000004.11:g.(?_55124936)_(57798318_?)dup	SPINK2, SRP72 +18 more	Duplication	TMEM165-congenital disorder of glycosylation	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 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	LOC110120745, LOC129992610 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 814558	GRCh37/hg19 4q12(chr4:57067953-57957651)x3	SRP72, SPINK2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 814557	GRCh37/hg19 4q12(chr4:56942915-57151080)x1	CRACD	Copy number loss	not provided	GUncertain significance
Select item 814556	GRCh37/hg19 4q12(chr4:56859976-57079261)x3	CEP135, CRACD	Copy number gain	not provided	GUncertain significance
Select item 814555	GRCh37/hg19 4q12(chr4:56852775-57079261)x3	CRACD, CEP135	Copy number gain	not provided	GUncertain significance
Select item 562916	GRCh37/hg19 4q12(chr4:57036491-57206774)x1	CRACD, AASDH	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)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 148576	GRCh38/hg38 4q12(chr4:56248102-57218522)x4	AASDH, ARL9 +39 more	Copy number gain	See cases	GUncertain significance

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