ClinVar for Gene (Select 129998224) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3027878	NM_203288.2(RP9):c.129G>T (p.Gln43His)	LOC129998224, RP9 (Q43H)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3010670	NM_203288.2(RP9):c.150C>T (p.Ser50=)	LOC129998224, RP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976890	NM_203288.2(RP9):c.152+13C>T	LOC129998224, RP9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972986	NM_203288.2(RP9):c.99G>C (p.Lys33Asn)	LOC129998224, RP9 (K33N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2731697	NM_203288.2(RP9):c.117del (p.Gln40fs)	LOC129998224, RP9 (Q40fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2617573	NM_203288.2(RP9):c.129G>C (p.Gln43His)	LOC129998224, RP9 (Q43H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540265	NM_203288.2(RP9):c.122A>C (p.Gln41Pro)	LOC129998224, RP9 (Q41P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532990	NM_203288.2(RP9):c.89G>T (p.Arg30Leu)	LOC129998224, RP9 (R30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284886	NM_203288.2(RP9):c.86G>C (p.Arg29Pro)	LOC129998224, RP9 (R29P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2115003	NM_203288.2(RP9):c.130C>T (p.Gln44Ter)	LOC129998224, RP9 (Q44*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2101926	NM_203288.2(RP9):c.138G>A (p.Lys46=)	LOC129998224, RP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2099791	NM_203288.2(RP9):c.152+1G>T	LOC129998224, RP9	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2055443	NM_203288.2(RP9):c.90G>A (p.Arg30=)	LOC129998224, RP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986208	NM_203288.2(RP9):c.106C>T (p.Arg36Ter)	LOC129998224, RP9 (R36*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1961864	NM_203288.2(RP9):c.128A>G (p.Gln43Arg)	LOC129998224, RP9 (Q43R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958361	NM_203288.2(RP9):c.107G>A (p.Arg36Gln)	LOC129998224, RP9 (R36Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933583	NM_203288.2(RP9):c.93G>C (p.Glu31Asp)	LOC129998224, RP9 (E31D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1599225	NM_203288.2(RP9):c.152+18G>A	LOC129998224, RP9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1437677	NM_203288.2(RP9):c.109C>T (p.His37Tyr)	LOC129998224, RP9 (H37Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1415189	NM_203288.2(RP9):c.117GCAGCAGCT[3] (p.40QQL[3])	LOC129998224, RP9	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1315203	NM_203288.2(RP9):c.152T>C (p.Phe51Ser)	LOC129998224, RP9 (F51S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 152941	GRCh38/hg38 7p14.3(chr7:30938370-33400996)x1	ADCYAP1R1, AVL9 +54 more	Copy number loss	See cases	GLikely pathogenic
Select item 151578	GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1	AMPH, ANLN +229 more	Copy number loss	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57469	GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3	ADCYAP1R1, AQP1 +85 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 27