RFESD[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	LOC110120974, LOC110120977 +277 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +275 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 59667	GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1	ARB2A, ARRDC3-AS1 +147 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +343 more	Copy number loss	See cases	GPathogenic
Select item 59443	GRCh38/hg38 5q15(chr5:93405010-97716265)x3	ARB2A, ARSK +120 more	Copy number gain	See cases	GUncertain significance
Select item 150147	GRCh38/hg38 5q15(chr5:94902711-95930059)x3	ARSK, ELL2 +42 more	Copy number gain	See cases	GLikely benign
Select item 2387430	NM_001131066.2(RFESD):c.250A>G (p.Arg84Gly)	RFESD, SPATA9 (R31G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388304	NM_001131066.2(RFESD):c.317T>C (p.Met106Thr)	RFESD, SPATA9 (M106T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464786	NM_001131066.2(RFESD):c.325C>T (p.Arg109Cys)	RFESD, SPATA9 (R109C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257218	NM_001131066.2(RFESD):c.325C>A (p.Arg109Ser)	RFESD, SPATA9 (R109S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279221	NM_001131066.2(RFESD):c.400C>T (p.Pro134Ser)	RFESD, SPATA9 (P81S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367480	NM_001131066.2(RFESD):c.401C>G (p.Pro134Arg)	RFESD, SPATA9 (P134R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153372	NM_001131066.2(RFESD):c.416A>G (p.Lys139Arg)	RFESD, SPATA9 (K86R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313861	NM_001131066.2(RFESD):c.418A>G (p.Ile140Val)	RFESD, SPATA9 (I140V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153373	NM_001131066.2(RFESD):c.554C>A (p.Thr185Asn)	RFESD, SPATA9 (T132N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313860	NM_001131066.2(RFESD):c.582C>G (p.Asp194Glu)	RFESD, SPATA9 (D194E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148929	GRCh37/hg19 5q14.3-21.2(chr5:89923199-104256041)x3	ADGRV1, ARB2A +34 more	Copy number gain	See cases	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 2425958	NC_000005.9:g.(?_94800311)_(96107383_?)del	ARSK, CAST +9 more	Deletion	not provided	GPathogenic
Select item 1808134	GRCh37/hg19 5q15(chr5:93524163-95017463)x3	ARSK, FAM81B +7 more	Copy number gain	not provided	GUncertain significance
Select item 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
Select item 816490	GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3	CAST, CETN3 +45 more	Copy number gain	See cases	GLikely pathogenic
Select item 814714	GRCh37/hg19 5q15(chr5:94952542-95069744)x1	RFESD, SPATA9 +2 more	Copy number loss	not provided	GUncertain significance
Select item 814713	GRCh37/hg19 5q15(chr5:94715085-95251238)x3	SPATA9, ARSK +7 more	Copy number gain	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563093	GRCh37/hg19 5q15(chr5:94881523-95294150)x3	SPATA9, GLRX +6 more	Copy number gain	not provided	GUncertain significance
Select item 563091	GRCh37/hg19 5q14.3-21.3(chr5:91504101-104858348)x1	ARB2A, ARSK +31 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 253708	GRCh37/hg19 5q15(chr5:94319893-95158593)x3	TTC37, SPATA9 +7 more	Copy number gain	See cases	GUncertain significance

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Items: 40