ClinVar for Gene (Select 100131137) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3261962	NM_001128326.2(BSPH1):c.267C>G (p.Asn89Lys)	BSPH1 (N89K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3135313	NM_001128326.2(BSPH1):c.235T>G (p.Trp79Gly)	BSPH1 (W79G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611486	NM_001128326.2(BSPH1):c.16C>T (p.Leu6Phe)	BSPH1 (L6F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588042	NM_001128326.2(BSPH1):c.38G>A (p.Arg13Gln)	BSPH1 (R13Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556584	NM_001128326.2(BSPH1):c.356C>T (p.Thr119Ile)	BSPH1 (T119I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522472	NM_001128326.2(BSPH1):c.292C>T (p.Arg98Cys)	BSPH1 (R98C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513710	NM_001128326.2(BSPH1):c.179T>C (p.Ile60Thr)	BSPH1 (I60T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480147	NM_001128326.2(BSPH1):c.136G>A (p.Val46Ile)	BSPH1 (V46I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471387	NM_001128326.2(BSPH1):c.7T>C (p.Ser3Pro)	BSPH1 (S3P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370357	NM_001128326.2(BSPH1):c.326A>G (p.Glu109Gly)	BSPH1 (E109G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278413	NM_001128326.2(BSPH1):c.50C>T (p.Ala17Val)	BSPH1 (A17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258352	NM_001128326.2(BSPH1):c.75T>A (p.Asn25Lys)	BSPH1 (N25K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212802	NM_001128326.2(BSPH1):c.376C>G (p.Arg126Gly)	BSPH1 (R126G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	HSD17B14, IZUMO1 +58 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 625762	GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536)	AP2S1, ARHGAP35 +33 more	Copy number gain	not provided	GPathogenic
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 441540	GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1	AP2S1, ARHGAP35 +46 more	Copy number loss	See cases	GLikely pathogenic
Select item 254012	GRCh37/hg19 19q13.33(chr19:48345470-48575975)x3	CRX, BSPH1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 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 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 27