ClinVar for Gene (Select 91433) - ClinVar

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Links from Gene

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313417	NM_001017919.2(RCCD1):c.211G>A (p.Gly71Ser)	RCCD1 (G71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313416	NM_001017919.2(RCCD1):c.661C>T (p.His221Tyr)	RCCD1 (H221Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152704	NM_001017919.2(RCCD1):c.807G>C (p.Gln269His)	RCCD1 (Q269H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152703	NM_001017919.2(RCCD1):c.356C>T (p.Ala119Val)	RCCD1 (A119V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152702	NM_001017919.2(RCCD1):c.1085G>C (p.Gly362Ala)	RCCD1 (G362A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152701	NM_001017919.2(RCCD1):c.1071G>T (p.Lys357Asn)	RCCD1 (K357N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152700	NM_001017919.2(RCCD1):c.1066G>A (p.Val356Ile)	RCCD1 (V356I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063360	GRCh37/hg19 15q26.1(chr15:91488314-91521367)x1	PRC1, RCCD1 +1 more	Copy number loss	not specified	GUncertain significance
Select item 2609830	NM_001017919.2(RCCD1):c.30C>A (p.Phe10Leu)	LOC130057956, RCCD1 (F10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607254	NM_001017919.2(RCCD1):c.457C>T (p.Pro153Ser)	RCCD1 (P153S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603628	NM_001017919.2(RCCD1):c.36C>G (p.Phe12Leu)	LOC130057956, RCCD1 (F12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601297	NM_001017919.2(RCCD1):c.299C>A (p.Ala100Glu)	RCCD1 (A100E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2560637	NM_001017919.2(RCCD1):c.601C>A (p.Pro201Thr)	RCCD1 (P201T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553792	NM_001017919.2(RCCD1):c.935C>T (p.Thr312Ile)	RCCD1 (T312I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545536	NM_001017919.2(RCCD1):c.93C>A (p.Ser31Arg)	LOC130057956, RCCD1 (S31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543349	NM_001017919.2(RCCD1):c.589G>A (p.Ala197Thr)	RCCD1 (A197T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526879	NM_001017919.2(RCCD1):c.32G>C (p.Gly11Ala)	LOC130057956, RCCD1 (G11A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519296	NM_001017919.2(RCCD1):c.418G>A (p.Ala140Thr)	RCCD1 (A140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515688	NM_001017919.2(RCCD1):c.1012A>G (p.Thr338Ala)	RCCD1 (T338A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	ABHD2, ACAN +86 more	Copy number gain	not provided	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2422891	NC_000015.9:g.(?_89379429)_(91565479_?)dup	ABHD2, ACAN +37 more	Duplication	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 2403951	NM_001017919.2(RCCD1):c.1102G>A (p.Val368Met)	RCCD1 (V368M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398568	NM_001017919.2(RCCD1):c.1076T>A (p.Val359Asp)	RCCD1 (V359D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354448	NM_001017919.2(RCCD1):c.292G>A (p.Val98Ile)	RCCD1 (V98I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296096	NM_001017919.2(RCCD1):c.285A>C (p.Leu95Phe)	RCCD1 (L95F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295411	NM_001017919.2(RCCD1):c.486G>C (p.Gln162His)	RCCD1 (Q162H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252144	NM_001017919.2(RCCD1):c.445C>T (p.Pro149Ser)	RCCD1 (P149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247489	NM_001017919.2(RCCD1):c.350C>T (p.Pro117Leu)	RCCD1 (P117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227981	NM_001017919.2(RCCD1):c.820G>A (p.Gly274Ser)	RCCD1 (G274S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216143	NM_001017919.2(RCCD1):c.259C>T (p.Arg87Cys)	RCCD1 (R87C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207118	NM_001017919.2(RCCD1):c.26G>C (p.Trp9Ser)	LOC130057956, RCCD1 (W9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1340806	GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1	ABHD2, ANPEP +41 more	Copy number loss	not provided	GPathogenic
Select item 1328111	GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)x1	ABHD2, ACAN +50 more	Copy number loss	not provided	GPathogenic
Select item 1027033	NC_000015.9:g.(?_91290623)_(91512067_?)dup	BLM, FES +6 more	Duplication	Bloom syndrome	GUncertain significance
Select item 983158	GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1	ABHD2, ACAN +77 more	Copy number loss	See cases	GPathogenic
Select item 833278	NC_000015.10:g.(?_90782812)_(90968837_?)dup	BLM, FES +6 more	Duplication	Bloom syndrome	GUncertain significance
Select item 815743	GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1	ABHD2, ACAN +76 more	Copy number loss	not provided	GPathogenic
Select item 770788	NM_001017919.2(RCCD1):c.1032C>T (p.Arg344=)	RCCD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770436	NM_001017919.2(RCCD1):c.378C>T (p.Ala126=)	RCCD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708179	NM_001017919.2(RCCD1):c.745C>T (p.Leu249=)	RCCD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688677	GRCh37/hg19 15q26.1(chr15:91276782-91550953)x1	BLM, FES +7 more	Copy number loss	not provided	GUncertain significance
Select item 687287	GRCh37/hg19 15q26.1(chr15:91229877-93677014)x1	BLM, C15orf32 +14 more	Copy number loss	not provided	GPathogenic
Select item 686177	GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3	ADAMTS17, ALDH1A3 +54 more	Copy number gain	not provided	GPathogenic
Select item 625751	GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)	ABHD2, ACAN +58 more	Copy number loss	not provided	GPathogenic
Select item 564230	GRCh37/hg19 15q26.1(chr15:91263414-91502563)x3	MAN2A2, FES +5 more	Copy number gain	not provided	GUncertain significance
Select item 564229	GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3	ABHD2, ADAMTS17 +66 more	Copy number gain	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 443650	GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3	ABHD2, ACAN +55 more	Copy number gain	See cases	GLikely pathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +153 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395560	GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3	ABHD2, ACAN +79 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 395056	GRCh37/hg19 15q26.1-26.3(chr15:90346994-102354798)	ADAMTS17, ALDH1A3 +51 more	Copy number loss	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 394871	GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3	ABHD2, ACAN +87 more	Copy number gain	See cases	GPathogenic
Select item 393972	GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1	FANCI, FES +50 more	Copy number loss	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC126862240, LOC126862241 +311 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	LOC121530602, LOC121530603 +517 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057831, LOC130057832 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	ABHD2, ACAN +630 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC129390732, LOC129390733 +500 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	LOC130057938, LOC130057939 +611 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 74