Related gene-specific medical variations for Gene (Select 10161) - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3119727	NM_001162498.3(LPAR6):c.933A>T (p.Arg311Ser)	LPAR6, RB1 (R311S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119726	NM_001162498.3(LPAR6):c.49T>C (p.Tyr17His)	LPAR6, RB1 (Y17H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119724	NM_001162498.3(LPAR6):c.116T>C (p.Ile39Thr)	LPAR6, RB1 (I39T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3044183	NM_001162498.3(LPAR6):c.756T>C (p.Tyr252=)	LPAR6, RB1	Single nucleotide variant (synonymous variant +1 more)	LPAR6-related condition	GLikely benign
Select item 3016007	NM_001162498.3(LPAR6):c.132C>T (p.Cys44=)	LPAR6, RB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2896091	NM_001162498.3(LPAR6):c.370_375del (p.Ser124_Lys125del)	LPAR6, RB1	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2643812	NM_001162498.3(LPAR6):c.540T>C (p.Tyr180=)	LPAR6, RB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2512462	NM_001162498.3(LPAR6):c.626A>G (p.Lys209Arg)	LPAR6, RB1 (K209R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2506997	NM_001162498.3(LPAR6):c.145C>T (p.Arg49Ter)	LPAR6, RB1 (R49*)	Single nucleotide variant (nonsense +1 more)	Hypotrichosis 8	GPathogenic
Select item 2505342	NM_001162498.3(LPAR6):c.833G>A (p.Cys278Tyr)	LPAR6, RB1 (C278Y)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GLikely pathogenic
Select item 2505341	NM_001162498.3(LPAR6):c.830T>C (p.Leu277Pro)	LPAR6, RB1 (L277P)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GLikely pathogenic
Select item 2505340	NM_001162498.3(LPAR6):c.742A>T (p.Asn248Tyr)	LPAR6, RB1 (N248Y)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GLikely pathogenic
Select item 2505339	NM_001162498.3(LPAR6):c.8G>C (p.Ser3Thr)	LPAR6, RB1 (S3T)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GUncertain significance
Select item 2493267	NM_001162498.3(LPAR6):c.794T>C (p.Val265Ala)	LPAR6, RB1 (V265A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2491821	NM_001162498.3(LPAR6):c.728T>C (p.Val243Ala)	LPAR6, RB1 (V243A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471064	NM_001162498.3(LPAR6):c.474C>A (p.His158Gln)	LPAR6, RB1 (H158Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406764	NM_001162498.3(LPAR6):c.571G>C (p.Val191Leu)	LPAR6, RB1 (V191L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402771	NM_001162498.3(LPAR6):c.402G>C (p.Lys134Asn)	LPAR6, RB1 (K134N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353884	NM_001162498.3(LPAR6):c.31T>C (p.Tyr11His)	LPAR6, RB1 (Y11H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2318482	NM_001162498.3(LPAR6):c.353T>G (p.Ile118Ser)	LPAR6, RB1 (I118S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287928	NM_001162498.3(LPAR6):c.697G>A (p.Val233Ile)	LPAR6, RB1 (V233I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287621	NM_001162498.3(LPAR6):c.707T>C (p.Ile236Thr)	LPAR6, RB1 (I236T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282236	NM_001162498.3(LPAR6):c.104A>G (p.Asn35Ser)	LPAR6, RB1 (N35S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2275172	NM_001162498.3(LPAR6):c.709A>G (p.Ile237Val)	LPAR6, RB1 (I237V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207808	NM_001162498.3(LPAR6):c.83T>C (p.Phe28Ser)	LPAR6, RB1 (F28S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206065	NM_001162498.3(LPAR6):c.815T>C (p.Met272Thr)	LPAR6, RB1 (M272T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2157214	NM_001162498.3(LPAR6):c.451G>A (p.Ala151Thr)	LPAR6, RB1 (A151T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2101870	NM_001162498.3(LPAR6):c.500C>T (p.Ala167Val)	LPAR6, RB1 (A167V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1951744	NM_001162498.3(LPAR6):c.285G>C (p.Leu95=)	LPAR6, RB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1917028	NM_001162498.3(LPAR6):c.238C>T (p.Arg80Trp)	LPAR6, RB1 (R80W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1879258	NM_000321.3(RB1):c.1695+34353G>A	LPAR6, RB1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1879257	NM_001162498.3(LPAR6):c.456T>G (p.Val152=)	LPAR6, RB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1802233	NM_001162498.3(LPAR6):c.207_210dup (p.Pro71fs)	LPAR6, RB1 (P71fs)	Duplication (frameshift variant +1 more)	Hypotrichosis 8	GPathogenic
Select item 1704919	NM_000321.3(RB1):c.1695+29942T>C	RB1, LPAR6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1699007	NM_001162498.3(LPAR6):c.107G>A (p.Cys36Tyr)	LPAR6, RB1 (C36Y)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GUncertain significance
Select item 1685927	NM_001162498.3(LPAR6):c.1A>G (p.Met1Val)	LPAR6, RB1 (M1V)	Single nucleotide variant (missense variant +2 more)	Hypotrichosis 8	GPathogenic
Select item 1323245	NM_001162498.3(LPAR6):c.66_69dup (p.Phe24fs)	LPAR6, RB1 (F24fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1301824	NM_000321.3(RB1):c.1696-30191del	LPAR6, RB1	Deletion (intron variant)	not specified	GBenign
Select item 1234731	NM_001162498.3(LPAR6):c.*86C>A	LPAR6, RB1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1231305	NM_001162498.3(LPAR6):c.-473T>C	LPAR6, RB1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 802981	NM_001162498.3(LPAR6):c.341_344del (p.Arg114fs)	LPAR6, RB1 (R114fs)	Deletion (frameshift variant +1 more)	Retinoblastoma	GBenign
Select item 802980	NM_001162498.3(LPAR6):c.347del (p.Leu116fs)	LPAR6, RB1 (L116fs)	Deletion (frameshift variant +1 more)	Retinoblastoma	GBenign
Select item 802979	NM_001162498.3(LPAR6):c.350_352del (p.Ala117_Ile118delinsVal)	LPAR6, RB1	Deletion (inframe_indel +1 more)	Retinoblastoma	GBenign
Select item 802978	NM_001162498.3(LPAR6):c.354T>G (p.Ile118Met)	LPAR6, RB1 (I118M)	Single nucleotide variant (missense variant +1 more)	Retinoblastoma	GBenign
Select item 802977	NM_001162498.3(LPAR6):c.358T>G (p.Tyr120Asp)	RB1, LPAR6 (Y120D)	Single nucleotide variant (missense variant +1 more)	Retinoblastoma	GBenign
Select item 802976	NM_001162498.3(LPAR6):c.359del (p.Tyr120fs)	RB1, LPAR6 (Y120fs)	Deletion (frameshift variant +1 more)	Retinoblastoma	GBenign
Select item 802975	NM_001162498.3(LPAR6):c.361_362insGTAT (p.Pro121fs)	RB1, LPAR6 (P121fs)	Insertion (frameshift variant +1 more)	Retinoblastoma	GBenign
Select item 802974	NM_001162498.3(LPAR6):c.366T>A (p.Phe122Leu)	RB1, LPAR6 (F122L)	Single nucleotide variant (missense variant +1 more)	Retinoblastoma	GBenign
Select item 802973	NM_001162498.3(LPAR6):c.368_369insAAAAAAAA (p.Ser124fs)	LPAR6, RB1 (S124fs)	Insertion (frameshift variant +1 more)	Retinoblastoma	GUncertain significance
Select item 802972	NM_001162498.3(LPAR6):c.369_370del (p.Lys123fs)	LPAR6, RB1 (K123fs)	Deletion (frameshift variant +1 more)	Retinoblastoma	GLikely benign
Select item 802971	NM_001162498.3(LPAR6):c.819C>A (p.Tyr273Ter)	LPAR6, RB1 (Y273*)	Single nucleotide variant (nonsense +1 more)	Retinoblastoma	GLikely benign
Select item 791427	NM_001162498.3(LPAR6):c.174C>T (p.Asn58=)	LPAR6, RB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 780057	NM_001162498.3(LPAR6):c.801A>C (p.Ala267=)	LPAR6, RB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 774331	NM_001162498.3(LPAR6):c.921G>T (p.Trp307Cys)	LPAR6, RB1 (W307C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 769847	NM_000321.3(RB1):c.1695+30396A>G	LPAR6, RB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 592094	NM_001162498.3(LPAR6):c.373_374del (p.Lys125fs)	LPAR6, RB1 (K125fs)	Deletion (frameshift variant +1 more)	Hypotrichosis 8	GLikely pathogenic
Select item 217499	NM_001162498.3(LPAR6):c.188A>T (p.Asp63Val)	LPAR6, RB1 (D63V)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GLikely pathogenic
Select item 30780	NM_001162498.3(LPAR6):c.587C>T (p.Pro196Leu)	LPAR6, RB1 (P196L)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GUncertain significance
Select item 1829	NM_001162498.3(LPAR6):c.565G>A (p.Glu189Lys)	LPAR6, RB1 (E189K)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GLikely pathogenic
Select item 1828	NM_001162498.3(LPAR6):c.436G>A (p.Gly146Arg)	LPAR6, RB1 (G146R)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GLikely pathogenic
Select item 1827	NM_001162498.3(LPAR6):c.562A>T (p.Ile188Phe)	LPAR6, RB1 (I188F)	Single nucleotide variant (missense variant +1 more)	Hypotrichosis 8	GLikely pathogenic
Select item 1824	NM_001162498.3(LPAR6):c.463C>T (p.Gln155Ter)	LPAR6, RB1 (Q155*)	Single nucleotide variant (nonsense +1 more)	Hypotrichosis 8	GPathogenic

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Links from Gene

Items: 62