ClinVar for Gene (Select 401409) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312107	NM_001008749.3(RAB19):c.183T>G (p.Ile61Met)	RAB19 (I61M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312106	NM_001008749.3(RAB19):c.542C>T (p.Ala181Val)	RAB19 (A181V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312105	NM_001008749.3(RAB19):c.305G>T (p.Arg102Leu)	RAB19 (R102L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312104	NM_001008749.3(RAB19):c.232C>T (p.Arg78Cys)	RAB19 (R78C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312103	NM_001008749.3(RAB19):c.280A>G (p.Ile94Val)	RAB19 (I94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312102	NM_001008749.3(RAB19):c.573T>G (p.Ser191Arg)	RAB19 (S191R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150625	NM_001008749.3(RAB19):c.45C>A (p.Asp15Glu)	RAB19 (D15E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150624	NM_001008749.3(RAB19):c.457G>A (p.Gly153Ser)	RAB19 (G153S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150623	NM_001008749.3(RAB19):c.413G>A (p.Arg138Gln)	RAB19 (R138Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150622	NM_001008749.3(RAB19):c.356G>C (p.Gly119Ala)	RAB19 (G119A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150621	NM_001008749.3(RAB19):c.308C>T (p.Ser103Phe)	RAB19 (S103F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150620	NM_001008749.3(RAB19):c.166G>A (p.Val56Met)	RAB19 (V56M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150619	NM_001008749.3(RAB19):c.149T>C (p.Ile50Thr)	RAB19 (I50T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2605388	NM_001008749.3(RAB19):c.311C>T (p.Thr104Met)	RAB19 (T104M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2490607	NM_001008749.3(RAB19):c.316G>A (p.Glu106Lys)	RAB19 (E106K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470937	NM_001008749.3(RAB19):c.302G>A (p.Arg101Gln)	RAB19 (R101Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 2425073	NC_000007.13:g.(?_138391369)_(141759786_?)del	SSBP1, TAS2R3 +34 more	Deletion	not provided	GPathogenic
Select item 2386151	NM_001008749.3(RAB19):c.301C>T (p.Arg101Trp)	RAB19 (R101W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366987	NM_001008749.3(RAB19):c.304C>T (p.Arg102Trp)	RAB19 (R102W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291007	NM_001008749.3(RAB19):c.430G>A (p.Asp144Asn)	RAB19 (D144N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic
Select item 1713131	NM_001008749.3(RAB19):c.331T>C (p.Trp111Arg)	RAB19 (W111R)	Single nucleotide variant (missense variant)	Non-syndromic syndactyly	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1450681	NC_000007.13:g.(?_137761265)_(141759786_?)dup	ADCK2, AGK +37 more	Duplication	not provided	GUncertain significance
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	EPHA1, EPHB6 +105 more	Copy number loss	Hypertelorism +7 more	GPathogenic
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815044	GRCh37/hg19 7q34(chr7:140055557-140128758)x1	SLC37A3, RAB19	Copy number loss	not provided	GUncertain significance
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 617479	Single allele	DGKI, SVOPL +74 more	Complex	Renal transitional cell carcinoma	GLikely pathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 443705	GRCh37/hg19 7q33-34(chr7:137434852-140349546)x3	AKR1D1, ATP6V0A4 +22 more	Copy number gain	See cases	GUncertain significance
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	DGKI, DNAJB6 +166 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 221830	GRCh37/hg19 7q34(chr7:140070378-140129626)x3	RAB19, SLC37A3	Copy number gain	Premature ovarian failure	GUncertain significance
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	TRBC1, TRBC2 +230 more	Copy number gain	See cases	GUncertain significance
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 154270	GRCh38/hg38 7q34(chr7:139476271-140449156)x1	CLEC2L, HIPK2 +53 more	Copy number loss	See cases	GUncertain significance
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 152389	GRCh38/hg38 7q34(chr7:140337173-140406740)x3	LOC129999498, LOC129999499 +4 more	Copy number gain	See cases	GLikely benign
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	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 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 65