11458[HGNC] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
Select item 2579250	GRCh38/hg38 19q13.32-13.33(chr19:47257435-47886413)x1	BICRA, BICRA-AS2 +56 more	Copy number loss	Cone-rod dystrophy 2	GUncertain significance
Select item 2579248	GRCh38/hg38 19q13.33(chr19:47794370-47886413)x1	CRX, LINC01595 +3 more	Copy number loss	Cone-rod dystrophy 2	GUncertain significance
Select item 148447	GRCh38/hg38 19q13.33(chr19:47832818-47902680)x3	CRX, LINC01595 +3 more	Copy number gain	See cases	GUncertain significance
Select item 708002	NM_003167.4(SULT2A1):c.679A>G (p.Lys227Glu)	SULT2A1 (K227E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2540215	NM_003167.4(SULT2A1):c.529A>G (p.Lys177Glu)	SULT2A1 (K177E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3172078	NM_003167.4(SULT2A1):c.454T>G (p.Trp152Gly)	SULT2A1 (W152G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479042	NM_003167.4(SULT2A1):c.332G>T (p.Ser111Ile)	SULT2A1 (S111I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619514	NM_003167.4(SULT2A1):c.281G>A (p.Arg94His)	SULT2A1 (R94H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714791	NM_003167.4(SULT2A1):c.258A>C (p.Ala86=)	SULT2A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3172077	NM_003167.4(SULT2A1):c.221G>A (p.Arg74Gln)	SULT2A1 (R74Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780577	NM_003167.4(SULT2A1):c.187G>C (p.Ala63Pro)	SULT2A1 (A63P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2591974	NM_003167.4(SULT2A1):c.148T>G (p.Leu50Val)	SULT2A1 (L50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323610	NM_003167.4(SULT2A1):c.92T>C (p.Val31Ala)	SULT2A1 (V31A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323611	NM_003167.4(SULT2A1):c.57A>T (p.Arg19Ser)	SULT2A1 (R19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602229	NM_003167.4(SULT2A1):c.50G>A (p.Gly17Asp)	SULT2A1 (G17D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526669	GRCh37/hg19 19q13.33(chr19:48334930-48402210)	CRX, SULT2A1	Copy number loss	not specified	GUncertain significance
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 832580	NC_000019.10:g.(?_47818438)_(47886257_?)del	CRX, SULT2A1	Deletion	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 830780	NC_000019.10:g.(?_47801775)_(47886257_?)del	CRX, SULT2A1 +1 more	Deletion	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 816088	GRCh37/hg19 19q13.33(chr19:48043102-48402210)x3	NOP53, EHD2 +6 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 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 564586	GRCh37/hg19 19q13.33(chr19:48206212-48431087)x3	SULT2A1, NOP53 +5 more	Copy number gain	not provided	GUncertain significance
Select item 564581	GRCh37/hg19 19q13.33(chr19:48303876-48402211)x1	CRX, SULT2A1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 493601	GRCh37/hg19 19q13.33(chr19:48242225-48399399)x3	EHD2, NOP53 +4 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 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

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Items: 33