ClinVar for Gene (Select 6689) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322215	NM_003121.5(SPIB):c.293C>T (p.Pro98Leu)	SPIB (P98L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169083	NM_003121.5(SPIB):c.83G>A (p.Ser28Asn)	SPIB (A9T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169081	NM_003121.5(SPIB):c.466C>T (p.Pro156Ser)	SPIB (P125S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169080	NM_003121.5(SPIB):c.169C>T (p.Pro57Ser)	SPIB (P57S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2560304	NM_003121.5(SPIB):c.544G>A (p.Gly182Arg)	SPIB (G91R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541710	NM_003121.5(SPIB):c.338A>T (p.Gln113Leu)	SPIB (Q113L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483324	NM_003121.5(SPIB):c.500A>C (p.Lys167Thr)	SPIB (K76T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407075	NM_003121.5(SPIB):c.199G>A (p.Ala67Thr)	SPIB (A67T)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2379291	NM_003121.5(SPIB):c.778C>T (p.Arg260Cys)	SPIB (R260C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304610	NM_003121.5(SPIB):c.628C>A (p.Arg210Ser)	SPIB (R210S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256310	NM_003121.5(SPIB):c.173A>G (p.Tyr58Cys)	SPIB (M39V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206287	NM_003121.5(SPIB):c.170C>G (p.Pro57Arg)	SPIB (P57R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808756	GRCh37/hg19 19q13.33(chr19:50883114-51304591)x3	ACP4, ASPDH +13 more	Copy number gain	not provided	GUncertain significance
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816089	GRCh37/hg19 19q13.33-13.41(chr19:50469730-51916485)x3	ACP4, ASPDH +46 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 784719	NM_003121.5(SPIB):c.483C>T (p.Ser161=)	SPIB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778173	NM_003121.5(SPIB):c.62G>A (p.Gly21Asp)	SPIB (A2T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 769983	NM_003121.5(SPIB):c.309= (p.Pro103=)	SPIB	Variation (no sequence alteration +1 more)	not provided	GBenign
Select item 769042	NM_003121.5(SPIB):c.310G>C (p.Ala104Pro)	SPIB (A104P)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 753149	NM_003121.5(SPIB):c.447T>C (p.Asp149=)	SPIB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750599	NM_003121.5(SPIB):c.51+10G>A	SPIB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 736583	NM_003121.5(SPIB):c.24-7C>T	SPIB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 727050	NM_003121.5(SPIB):c.33G>A (p.Gly11=)	SPIB	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 37