ClinVar for Gene (Select 124912) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321739	NM_173847.5(SPACA3):c.602G>T (p.Cys201Phe)	SPACA3 (C98F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321738	NM_173847.5(SPACA3):c.194G>A (p.Cys65Tyr)	SPACA3 (C65Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3321737	NM_173847.5(SPACA3):c.355G>A (p.Ala119Thr)	SPACA3 (A119T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167986	NM_173847.5(SPACA3):c.95G>A (p.Cys32Tyr)	SPACA3 (C32Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3167985	NM_173847.5(SPACA3):c.88G>T (p.Val30Leu)	SPACA3 (V30L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3167984	NM_173847.5(SPACA3):c.62C>T (p.Pro21Leu)	SPACA3 (P21L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3167983	NM_173847.5(SPACA3):c.488G>A (p.Arg163Gln)	SPACA3 (R71Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3167982	NM_173847.5(SPACA3):c.341A>G (p.Asp114Gly)	SPACA3 (D114G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167981	NM_173847.5(SPACA3):c.307G>A (p.Gly103Arg)	SPACA3 (G103R)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3167980	NM_173847.5(SPACA3):c.131G>A (p.Gly44Asp)	SPACA3 (G44D)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2596337	NM_173847.5(SPACA3):c.445A>T (p.Arg149Trp)	SPACA3 (R149W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 2518572	NM_173847.5(SPACA3):c.479A>G (p.Asn160Ser)	SPACA3 (N160S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516956	NM_173847.5(SPACA3):c.467C>T (p.Pro156Leu)	SPACA3 (P53L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493593	NM_173847.5(SPACA3):c.562C>G (p.Pro188Ala)	SPACA3 (P96A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382353	NM_173847.5(SPACA3):c.86T>C (p.Leu29Pro)	SPACA3 (L29P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2302670	NM_173847.5(SPACA3):c.464C>T (p.Thr155Ile)	SPACA3 (T155I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282051	NM_173847.5(SPACA3):c.212T>C (p.Leu71Ser)	SPACA3 (L71S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2228091	NM_173847.5(SPACA3):c.79C>T (p.Arg27Trp)	SPACA3 (R27W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2214971	NM_173847.5(SPACA3):c.154G>A (p.Gly52Ser)	SPACA3 (G52S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1526573	GRCh37/hg19 17q11.2-12(chr17:30497948-31819040)	ASIC2, C17orf75 +8 more	Copy number loss	not specified	GUncertain significance
Select item 981056	GRCh37/hg19 17q11.2-12(chr17:29989741-32355632)	LRRC37B, CDK5R1 +12 more	Copy number loss	Nanophthalmos 4 +2 more	GPathogenic
Select item 783778	NM_173847.5(SPACA3):c.382G>A (p.Ala128Thr)	SPACA3 (A128T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768868	NM_173847.5(SPACA3):c.633T>C (p.Asp211=)	SPACA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 725292	NM_173847.5(SPACA3):c.563C>T (p.Pro188Leu)	SPACA3 (P85L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 443455	GRCh37/hg19 17q11.2-12(chr17:29578241-32142196)x1	ASIC2, C17orf75 +18 more	Copy number loss	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 30