Related gene-specific medical variations for Gene (Select 93664) - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314757	NM_198085.2(RNF148):c.67A>G (p.Ile23Val)	CADPS2, RNF148 (I23V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314756	NM_198085.2(RNF148):c.103A>G (p.Lys35Glu)	CADPS2, RNF148 (K35E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314755	NM_198085.2(RNF148):c.842A>T (p.His281Leu)	CADPS2, RNF148 (H281L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314728	NM_139175.2(RNF133):c.745A>G (p.Ile249Val)	CADPS2, RNF133 (I249V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3314727	NM_139175.2(RNF133):c.777C>G (p.Cys259Trp)	CADPS2, RNF133 (C259W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262928	NM_017954.11(CADPS2):c.61G>T (p.Asp21Tyr)	CADPS2, LOC129999214 (D21Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155091	NM_198085.2(RNF148):c.905T>C (p.Ile302Thr)	CADPS2, RNF148 (I302T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155090	NM_198085.2(RNF148):c.886C>G (p.Pro296Ala)	CADPS2, RNF148 (P296A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155088	NM_198085.2(RNF148):c.773G>C (p.Cys258Ser)	CADPS2, RNF148 (C258S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155087	NM_198085.2(RNF148):c.770A>G (p.Asn257Ser)	CADPS2, RNF148 (N257S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3155086	NM_198085.2(RNF148):c.720A>C (p.Gln240His)	CADPS2, RNF148 (Q240H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155084	NM_198085.2(RNF148):c.437G>T (p.Gly146Val)	CADPS2, RNF148 (G146V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155083	NM_198085.2(RNF148):c.40G>A (p.Val14Ile)	CADPS2, RNF148 (V14I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155082	NM_198085.2(RNF148):c.382A>G (p.Ile128Val)	CADPS2, RNF148 (I128V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155080	NM_198085.2(RNF148):c.31C>G (p.His11Asp)	CADPS2, RNF148 (H11D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155079	NM_198085.2(RNF148):c.186C>A (p.Phe62Leu)	CADPS2, RNF148 (F62L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155078	NM_198085.2(RNF148):c.133A>G (p.Thr45Ala)	CADPS2, RNF148 (T45A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155032	NM_139175.2(RNF133):c.71T>C (p.Leu24Pro)	CADPS2, RNF133 (L24P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155031	NM_139175.2(RNF133):c.691C>G (p.Gln231Glu)	CADPS2, RNF133 (Q231E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155030	NM_139175.2(RNF133):c.569A>G (p.Tyr190Cys)	CADPS2, RNF133 (Y190C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155029	NM_139175.2(RNF133):c.53T>G (p.Leu18Arg)	CADPS2, RNF133 (L18R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155028	NM_139175.2(RNF133):c.421C>T (p.Pro141Ser)	CADPS2, RNF133 (P141S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155027	NM_139175.2(RNF133):c.1030G>A (p.Gly344Arg)	CADPS2, RNF133 (G344R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3062982	GRCh37/hg19 7q31.32(chr7:122371860-122401581)x1	CADPS2	Copy number loss	not specified	GUncertain significance
Select item 2621386	NM_198085.2(RNF148):c.858C>A (p.Asp286Glu)	CADPS2, RNF148 (D286E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601137	NM_017954.11(CADPS2):c.92G>A (p.Arg31Gln)	CADPS2, LOC129999214 (R31Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591121	NM_139175.2(RNF133):c.685G>A (p.Asp229Asn)	CADPS2, RNF133 (D229N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589786	NM_198085.2(RNF148):c.497C>T (p.Ser166Leu)	CADPS2, RNF148 (S166L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2544328	NM_198085.2(RNF148):c.38C>T (p.Ser13Phe)	CADPS2, RNF148 (S13F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543433	NM_139175.2(RNF133):c.662G>A (p.Arg221Gln)	CADPS2, RNF133 (R221Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540235	NM_139175.2(RNF133):c.319C>T (p.Arg107Trp)	CADPS2, RNF133 (R107W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529813	NM_139175.2(RNF133):c.358A>G (p.Thr120Ala)	CADPS2, RNF133 (T120A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2528702	NM_139175.2(RNF133):c.973C>G (p.Leu325Val)	CADPS2, RNF133 (L325V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520725	NM_198085.2(RNF148):c.814C>T (p.Arg272Cys)	CADPS2, RNF148 (R272C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516938	NM_139175.2(RNF133):c.802A>G (p.Ile268Val)	CADPS2, RNF133 (I268V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513048	NM_198085.2(RNF148):c.820T>G (p.Leu274Val)	CADPS2, RNF148 (L274V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485415	NM_139175.2(RNF133):c.134C>T (p.Ser45Leu)	CADPS2, RNF133 (S45L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474578	NM_139175.2(RNF133):c.266A>G (p.Asn89Ser)	CADPS2, RNF133 (N89S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456607	NM_198085.2(RNF148):c.307G>T (p.Ala103Ser)	CADPS2, RNF148 (A103S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387331	NM_198085.2(RNF148):c.454G>A (p.Ala152Thr)	CADPS2, RNF148 (A152T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385999	NM_198085.2(RNF148):c.644C>T (p.Pro215Leu)	CADPS2, RNF148 (P215L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372164	NM_198085.2(RNF148):c.793T>C (p.Tyr265His)	CADPS2, RNF148 (Y265H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364067	NM_139175.2(RNF133):c.334T>A (p.Phe112Ile)	CADPS2, RNF133 (F112I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339772	NM_198085.2(RNF148):c.61C>T (p.Leu21Phe)	CADPS2, RNF148 (L21F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328270	NM_198085.2(RNF148):c.806A>G (p.Asp269Gly)	CADPS2, RNF148 (D269G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314753	NM_198085.2(RNF148):c.218G>C (p.Gly73Ala)	CADPS2, RNF148 (G73A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314709	NM_017954.11(CADPS2):c.109A>G (p.Thr37Ala)	CADPS2, LOC129999214 (T37A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2309323	NM_198085.2(RNF148):c.187G>A (p.Gly63Arg)	CADPS2, RNF148 (G63R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289636	NM_139175.2(RNF133):c.121T>C (p.Tyr41His)	CADPS2, RNF133 (Y41H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283876	NM_139175.2(RNF133):c.56T>G (p.Met19Arg)	CADPS2, RNF133 (M19R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279635	NM_198085.2(RNF148):c.383T>C (p.Ile128Thr)	CADPS2, RNF148 (I128T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277322	NM_139175.2(RNF133):c.64A>G (p.Ser22Gly)	CADPS2, RNF133 (S22G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275660	NM_139175.2(RNF133):c.940A>G (p.Thr314Ala)	CADPS2, RNF133 (T314A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263295	NM_198085.2(RNF148):c.674G>A (p.Arg225Gln)	CADPS2, RNF148 (R225Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259192	NM_198085.2(RNF148):c.395A>G (p.Tyr132Cys)	CADPS2, RNF148 (Y132C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252052	NM_198085.2(RNF148):c.404C>T (p.Thr135Met)	CADPS2, RNF148 (T135M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247301	NM_139175.2(RNF133):c.286A>G (p.Lys96Glu)	CADPS2, RNF133 (K96E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228476	NM_198085.2(RNF148):c.181G>A (p.Val61Met)	CADPS2, RNF148 (V61M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228141	NM_139175.2(RNF133):c.386T>C (p.Ile129Thr)	CADPS2, RNF133 (I129T)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 2221570	NM_198085.2(RNF148):c.449T>C (p.Ile150Thr)	CADPS2, RNF148 (I150T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1676343	NM_017954.11(CADPS2):c.756G>A (p.Leu252=)	CADPS2	Single nucleotide variant	not provided	GBenign
Select item 1527390	GRCh37/hg19 7q31.32(chr7:122079896-122268969)	CADPS2	Copy number loss	not specified	GUncertain significance
Select item 979794	GRCh37/hg19 7q31.32(chr7:122009559-122111776)x1	CADPS2	Copy number loss	not provided	GUncertain significance
Select item 815028	GRCh37/hg19 7q31.32(chr7:122244359-122274997)x1	CADPS2	Copy number loss	not provided	GLikely pathogenic
Select item 684948	GRCh37/hg19 7q31.32(chr7:122349730-122390542)x1	CADPS2	Copy number loss	not provided	GUncertain significance
Select item 443251	GRCh37/hg19 7q31.32(chr7:121980929-122040689)x3	CADPS2	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 66