"GeneDx"[submitter] AND "TYRP1"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59101	GRCh38/hg38 9p23-22.2(chr9:11818291-17963882)x1	ADAMTSL1, BNC2 +61 more	Copy number loss	See cases	GPathogenic
Select item 144956	GRCh38/hg38 9p23(chr9:12196142-12794564)x3	LOC128772329, LOC128772330 +7 more	Copy number gain	See cases	GLikely benign
Select item 3375509	NM_000550.3(TYRP1):c.74A>C (p.Gln25Pro)	TYRP1 (Q25P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1073799	NM_000550.3(TYRP1):c.140_141del (p.Pro47fs)	TYRP1 (P47fs)	Deletion (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 1210858	NM_000550.3(TYRP1):c.194G>A (p.Cys65Tyr)	TYRP1 (C65Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195092	NM_000550.3(TYRP1):c.278G>A (p.Arg93His)	TYRP1 (R93H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1696903	NM_000550.3(TYRP1):c.394A>T (p.Asn132Tyr)	TYRP1 (N132Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 17594	NM_000550.3(TYRP1):c.497C>G (p.Ser166Ter)	TYRP1 (S166*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1308202	NM_000550.3(TYRP1):c.742T>C (p.Tyr248His)	TYRP1 (Y248H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197161	NM_000550.3(TYRP1):c.785C>T (p.Thr262Met)	TYRP1 (T262M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2501425	NM_000550.3(TYRP1):c.831A>G (p.Ile277Met)	TYRP1 (I277M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307301	NM_000550.3(TYRP1):c.913+6T>C	TYRP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1500484	NM_000550.3(TYRP1):c.947C>A (p.Ala316Asp)	LURAP1L-AS1, TYRP1 (A316D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1215523	NM_000550.3(TYRP1):c.1037C>G (p.Pro346Arg)	LURAP1L-AS1, TYRP1 (P346R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 17598	NM_000550.3(TYRP1):c.1057_1060del (p.Asn353fs)	LURAP1L-AS1, TYRP1 (N353fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 17596	NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln)	LURAP1L-AS1, TYRP1 (R356Q)	Single nucleotide variant (missense variant)	TYRP1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1304573	NM_000550.3(TYRP1):c.1082G>C (p.Gly361Ala)	TYRP1, LURAP1L-AS1 (G361A)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3 +2 more	GUncertain significance
Select item 17593	NM_000550.3(TYRP1):c.1103del (p.Lys368fs)	LURAP1L-AS1, TYRP1 (K368fs)	Deletion (frameshift variant)	Oculocutaneous albinism type 3 +2 more	GPathogenic/Likely pathogenic
Select item 212526	NM_000550.3(TYRP1):c.1138G>T (p.Ala380Ser)	LURAP1L-AS1, TYRP1 (A380S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1305260	NM_000550.3(TYRP1):c.1170A>C (p.Gln390His)	LURAP1L-AS1, TYRP1 (Q390H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 423157	NM_000550.3(TYRP1):c.1226C>T (p.Ala409Val)	LURAP1L-AS1, TYRP1 (A409V)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 3 +1 more	GConflicting classifications of pathogenicity
Select item 1315097	NM_000550.3(TYRP1):c.1239A>C (p.Glu413Asp)	LURAP1L-AS1, TYRP1 (E413D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 437186	NM_000550.3(TYRP1):c.1261+1G>A	LURAP1L-AS1, TYRP1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 256642	NM_000550.3(TYRP1):c.1261+20C>T	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 384337	NM_000550.3(TYRP1):c.1263T>C (p.Asp421=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1313504	NM_000550.3(TYRP1):c.1294A>T (p.Ile432Phe)	LURAP1L-AS1, TYRP1 (I432F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309803	NM_000550.3(TYRP1):c.1408+3G>C	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1504587	NM_000550.3(TYRP1):c.1483G>T (p.Gly495Trp)	LURAP1L-AS1, TYRP1 (G495W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 617812	NM_000550.3(TYRP1):c.1534C>T (p.Gln512Ter)	LURAP1L-AS1, TYRP1 (Q512*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism type 3 +1 more	GConflicting classifications of pathogenicity
Select item 624356	NM_000550.3(TYRP1):c.1554G>C (p.Gln518His)	LURAP1L-AS1, TYRP1 (Q518H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 253670	GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3	ACER2, ADAMTSL1 +59 more	Copy number gain	See cases	GPathogenic
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 35