Related gene-specific medical variations for Gene (Select 9315) - ClinVar - NCBI

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Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3202093	NM_001142475.2(NREP):c.95A>T (p.Lys32Ile)	NREP, NREP-AS1 (K32I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202092	NM_001142475.2(NREP):c.69G>C (p.Arg23Ser)	NREP, NREP-AS1 (R23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202091	NM_001142475.2(NREP):c.63G>T (p.Arg21Ser)	NREP, NREP-AS1 (R21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202090	NM_004772.4(NREP):c.70A>G (p.Arg24Gly)	NREP, STARD4-AS1 (R68G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202089	NM_004772.4(NREP):c.46T>C (p.Phe16Leu)	NREP, STARD4-AS1 (F16L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062862	GRCh37/hg19 5q22.1(chr5:111026699-111245403)x1	NREP	Copy number loss	not specified	GUncertain significance
Select item 2618864	NM_004772.4(NREP):c.124G>A (p.Asp42Asn)	NREP, STARD4-AS1 (D42N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401003	NM_001142475.2(NREP):c.35G>A (p.Arg12Gln)	NREP, NREP-AS1 (R12Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2383613	NM_004772.4(NREP):c.113G>A (p.Arg38His)	NREP, STARD4-AS1 (R38H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313767	NM_004772.4(NREP):c.139G>C (p.Ala47Pro)	NREP, STARD4-AS1 (A81P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297477	NM_004772.4(NREP):c.20T>C (p.Leu7Pro)	NREP, STARD4-AS1 (L51P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276043	NM_004772.4(NREP):c.199T>C (p.Phe67Leu)	NREP, STARD4-AS1 (F101L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227031	NM_004772.4(NREP):c.136G>A (p.Ala46Thr)	NREP, STARD4-AS1 (A90T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980176	GRCh37/hg19 5q22.1(chr5:111007909-111115004)x1	NREP	Copy number loss	not provided	GUncertain significance
Select item 814724	GRCh37/hg19 5q22.1(chr5:111251111-111465832)x1	NREP	Copy number loss	not provided	GUncertain significance
Select item 393533	GRCh37/hg19 5q22.1(chr5:111241351-111390356)x1	NREP	Copy number loss	VATER association	GLikely benign