ClinVar for Gene (Select 343990) - ClinVar

Links from Gene

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3077192	NM_207362.3(CRACDL):c.853G>A (p.Val285Met)	CRACDL (V285M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077191	NM_207362.3(CRACDL):c.830G>A (p.Arg277His)	CRACDL (R277H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077190	NM_207362.3(CRACDL):c.787G>A (p.Glu263Lys)	CRACDL (E263K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077189	NM_207362.3(CRACDL):c.781G>A (p.Glu261Lys)	CRACDL (E261K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077188	NM_207362.3(CRACDL):c.702C>G (p.Asn234Lys)	CRACDL (N234K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077186	NM_207362.3(CRACDL):c.590G>A (p.Arg197Gln)	CRACDL (R197Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077185	NM_207362.3(CRACDL):c.56G>A (p.Gly19Glu)	CRACDL (G19E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077184	NM_207362.3(CRACDL):c.412C>G (p.Pro138Ala)	CRACDL (P138A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077183	NM_207362.3(CRACDL):c.400A>G (p.Met134Val)	CRACDL (M134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077182	NM_207362.3(CRACDL):c.397A>C (p.Lys133Gln)	CRACDL (K133Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077181	NM_207362.3(CRACDL):c.2807C>T (p.Ala936Val)	CRACDL (A936V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077180	NM_207362.3(CRACDL):c.2701T>C (p.Phe901Leu)	CRACDL (F901L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077179	NM_207362.3(CRACDL):c.2668G>C (p.Ala890Pro)	CRACDL (A890P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077178	NM_207362.3(CRACDL):c.2637C>A (p.Ser879Arg)	CRACDL (S879R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077177	NM_207362.3(CRACDL):c.2615A>G (p.Lys872Arg)	CRACDL (K872R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077176	NM_207362.3(CRACDL):c.2607G>C (p.Glu869Asp)	CRACDL (E869D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077175	NM_207362.3(CRACDL):c.2551C>T (p.Arg851Trp)	CRACDL (R851W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077174	NM_207362.3(CRACDL):c.2421G>T (p.Lys807Asn)	CRACDL (K807N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077173	NM_207362.3(CRACDL):c.2374G>A (p.Glu792Lys)	CRACDL (E792K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077171	NM_207362.3(CRACDL):c.2315C>T (p.Thr772Met)	CRACDL (T772M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077170	NM_207362.3(CRACDL):c.2252G>A (p.Arg751Gln)	CRACDL (R751Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077169	NM_207362.3(CRACDL):c.2251C>T (p.Arg751Trp)	CRACDL (R751W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077168	NM_207362.3(CRACDL):c.2151G>C (p.Arg717Ser)	CRACDL (R717S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077167	NM_207362.3(CRACDL):c.2112G>C (p.Lys704Asn)	CRACDL (K704N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077166	NM_207362.3(CRACDL):c.2065A>T (p.Thr689Ser)	CRACDL (T689S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077165	NM_207362.3(CRACDL):c.2035A>G (p.Arg679Gly)	CRACDL (R679G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077164	NM_207362.3(CRACDL):c.2003C>A (p.Pro668Gln)	CRACDL (P668Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077163	NM_207362.3(CRACDL):c.1996C>G (p.Pro666Ala)	CRACDL (P666A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077162	NM_207362.3(CRACDL):c.1992A>C (p.Arg664Ser)	CRACDL (R664S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077161	NM_207362.3(CRACDL):c.1978G>A (p.Ala660Thr)	CRACDL (A660T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077160	NM_207362.3(CRACDL):c.1952G>T (p.Arg651Leu)	CRACDL (R651L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077159	NM_207362.3(CRACDL):c.1883G>A (p.Gly628Asp)	CRACDL (G628D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077158	NM_207362.3(CRACDL):c.1872C>G (p.His624Gln)	CRACDL (H624Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077157	NM_207362.3(CRACDL):c.1842C>G (p.Asp614Glu)	CRACDL (D614E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077156	NM_207362.3(CRACDL):c.1709G>T (p.Gly570Val)	CRACDL (G570V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077155	NM_207362.3(CRACDL):c.1631G>A (p.Arg544Gln)	CRACDL (R544Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077154	NM_207362.3(CRACDL):c.1612G>A (p.Glu538Lys)	CRACDL (E538K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077153	NM_207362.3(CRACDL):c.1457C>T (p.Ala486Val)	CRACDL (A486V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077152	NM_207362.3(CRACDL):c.1405G>A (p.Glu469Lys)	CRACDL (E469K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077151	NM_207362.3(CRACDL):c.1361C>G (p.Pro454Arg)	CRACDL (P454R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077150	NM_207362.3(CRACDL):c.1358C>T (p.Pro453Leu)	CRACDL (P453L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077149	NM_207362.3(CRACDL):c.1267G>A (p.Glu423Lys)	CRACDL (E423K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077148	NM_207362.3(CRACDL):c.1124C>A (p.Ala375Glu)	CRACDL (A375E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077147	NM_207362.3(CRACDL):c.1082C>A (p.Pro361His)	CRACDL (P361H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077146	NM_207362.3(CRACDL):c.1069C>T (p.Pro357Ser)	CRACDL (P357S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077145	NM_207362.3(CRACDL):c.1067C>A (p.Ser356Tyr)	CRACDL (S356Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077144	NM_207362.3(CRACDL):c.1048C>G (p.Leu350Val)	CRACDL (L350V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077143	NM_207362.3(CRACDL):c.1033G>A (p.Glu345Lys)	CRACDL (E345K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 2616678	NM_207362.3(CRACDL):c.1669C>A (p.Pro557Thr)	CRACDL (P557T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610483	NM_207362.3(CRACDL):c.34C>T (p.Arg12Trp)	CRACDL (R12W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597676	NM_207362.3(CRACDL):c.1040C>T (p.Ala347Val)	CRACDL (A347V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595180	NM_207362.3(CRACDL):c.439C>T (p.Arg147Trp)	CRACDL (R147W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592650	NM_207362.3(CRACDL):c.2489C>T (p.Thr830Ile)	CRACDL (T830I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590329	NM_207362.3(CRACDL):c.994C>T (p.Pro332Ser)	CRACDL (P332S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559090	NM_207362.3(CRACDL):c.1981C>T (p.Pro661Ser)	CRACDL (P661S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554674	NM_207362.3(CRACDL):c.2032G>A (p.Asp678Asn)	CRACDL (D678N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551669	NM_207362.3(CRACDL):c.2242G>T (p.Gly748Trp)	CRACDL (G748W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545619	NM_207362.3(CRACDL):c.1225G>C (p.Gly409Arg)	CRACDL (G409R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537828	NM_207362.3(CRACDL):c.2405G>A (p.Arg802His)	CRACDL (R802H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2530867	NM_207362.3(CRACDL):c.1357C>T (p.Pro453Ser)	CRACDL (P453S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528057	NM_207362.3(CRACDL):c.2041C>T (p.Pro681Ser)	CRACDL (P681S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527288	NM_207362.3(CRACDL):c.970G>A (p.Glu324Lys)	CRACDL (E324K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487032	NM_207362.3(CRACDL):c.1423G>C (p.Glu475Gln)	CRACDL (E475Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486414	NM_207362.3(CRACDL):c.2677C>T (p.Arg893Trp)	CRACDL (R893W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485404	NM_207362.3(CRACDL):c.2295G>C (p.Lys765Asn)	CRACDL (K765N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481579	NM_207362.3(CRACDL):c.2200C>G (p.Pro734Ala)	CRACDL (P734A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476624	NM_207362.3(CRACDL):c.2492G>T (p.Arg831Leu)	CRACDL (R831L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475899	NM_207362.3(CRACDL):c.1457C>G (p.Ala486Gly)	CRACDL (A486G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472361	NM_207362.3(CRACDL):c.1721T>A (p.Phe574Tyr)	CRACDL (F574Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467982	NM_207362.3(CRACDL):c.1724C>G (p.Ser575Trp)	CRACDL (S575W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461309	NM_207362.3(CRACDL):c.1343A>G (p.Asp448Gly)	CRACDL (D448G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459845	NM_207362.3(CRACDL):c.1381G>A (p.Glu461Lys)	CRACDL (E461K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808615	GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3	ACTR1B, ADRA2B +54 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 980468	GRCh37/hg19 2q11.2(chr2:99356669-99984607)x3	LYG2, TXNDC9 +8 more	Copy number gain	not provided	GUncertain significance
Select item 787773	NM_207362.3(CRACDL):c.2678G>A (p.Arg893Gln)	CRACDL (R893Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785973	NM_207362.3(CRACDL):c.2592C>T (p.Pro864=)	CRACDL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688876	GRCh37/hg19 2q11.2(chr2:99542665-100190293)x1	AFF3, C2orf15 +10 more	Copy number loss	not provided	GUncertain significance
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic
Select item 394206	GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394)	AFF3, ADRA2B +53 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 150339	GRCh38/hg38 2q11.2(chr2:98411773-101636907)x1	AFF3, C2orf15 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 148950	GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3	ACTR1B, ADRA2B +207 more	Copy number gain	See cases	GUncertain significance
Select item 60183	GRCh38/hg38 2q11.2(chr2:98787057-100785053)x1	AFF3, C2orf15 +56 more	Copy number loss	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 94