ClinVar for Gene (Select 126432) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314400	NM_001195833.2(RINL):c.550G>A (p.Glu184Lys)	RINL (E184K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314399	NM_001195833.2(RINL):c.1691G>A (p.Ser564Asn)	RINL (S450N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3154455	NM_001195833.2(RINL):c.745G>A (p.Asp249Asn)	RINL (D135N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154454	NM_001195833.2(RINL):c.415C>T (p.Pro139Ser)	RINL (P25S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154453	NM_001195833.2(RINL):c.383G>C (p.Ser128Thr)	RINL (S14T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154452	NM_001195833.2(RINL):c.323T>A (p.Leu108Gln)	RINL (L108Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154451	NM_001195833.2(RINL):c.236C>T (p.Pro79Leu)	RINL (P79L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154450	NM_001195833.2(RINL):c.224C>T (p.Thr75Ile)	RINL (T75I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3154449	NM_001195833.2(RINL):c.190G>C (p.Val64Leu)	RINL (V64L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3154447	NM_001195833.2(RINL):c.1156G>A (p.Gly386Arg)	RINL (G272R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154446	NM_001195833.2(RINL):c.1112C>T (p.Pro371Leu)	RINL (P257L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3026970	NM_001195833.2(RINL):c.1327C>G (p.Arg443Gly)	RINL (R329G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649824	NM_001195833.2(RINL):c.180G>A (p.Ala60=)	RINL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2649823	NM_001195833.2(RINL):c.1164G>A (p.Gly388=)	RINL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2546883	NM_001195833.2(RINL):c.881G>A (p.Gly294Glu)	RINL (G180E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525726	NM_001195833.2(RINL):c.1663T>C (p.Trp555Arg)	RINL (W441R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515520	NM_001195833.2(RINL):c.1051C>A (p.Gln351Lys)	RINL (Q237K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514127	NM_001195833.2(RINL):c.277G>A (p.Glu93Lys)	RINL (E93K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507886	NM_001195833.2(RINL):c.67G>A (p.Val23Met)	RINL (V23M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	GUncertain significance
Select item 2423269	NC_000019.9:g.(?_38375572)_(39738787_?)dup	DPF1, ECH1 +34 more	Duplication	RYR1-related disorder	GUncertain significance
Select item 2395953	NM_001195833.2(RINL):c.409C>T (p.Leu137Phe)	RINL (L137F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382189	NM_001195833.2(RINL):c.1078G>A (p.Ala360Thr)	RINL (A246T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373452	NM_001195833.2(RINL):c.526G>A (p.Glu176Lys)	RINL (E62K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370127	NM_001195833.2(RINL):c.1406T>C (p.Ile469Thr)	RINL (I355T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361421	NM_001195833.2(RINL):c.766G>C (p.Glu256Gln)	RINL (E142Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356598	NM_001195833.2(RINL):c.932C>T (p.Thr311Ile)	RINL (T197I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2352896	NM_001195833.2(RINL):c.593A>G (p.His198Arg)	RINL (H198R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349929	NM_001195833.2(RINL):c.1151G>A (p.Arg384Gln)	RINL (R270Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332728	NM_001195833.2(RINL):c.89C>T (p.Pro30Leu)	RINL (P30L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318821	NM_001195833.2(RINL):c.71A>G (p.Asn24Ser)	RINL (N24S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314507	NM_001195833.2(RINL):c.625G>T (p.Gly209Trp)	RINL (G209W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303006	NM_001195833.2(RINL):c.1381G>C (p.Glu461Gln)	RINL (E347Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265938	NM_001195833.2(RINL):c.197T>A (p.Leu66Gln)	RINL (L66Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253045	NM_001195833.2(RINL):c.1111C>A (p.Pro371Thr)	RINL (P257T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236861	NM_001195833.2(RINL):c.182A>C (p.Glu61Ala)	RINL (E61A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236860	NM_001195833.2(RINL):c.181G>A (p.Glu61Lys)	RINL (E61K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2232385	NM_001195833.2(RINL):c.559C>T (p.Pro187Ser)	RINL (P187S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2229085	NM_001195833.2(RINL):c.647C>T (p.Pro216Leu)	RINL (P102L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224389	NM_001195833.2(RINL):c.1225C>G (p.Arg409Gly)	RINL (R295G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219678	NM_001195833.2(RINL):c.17A>C (p.Asp6Ala)	RINL (D6A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208898	NM_001195833.2(RINL):c.820G>A (p.Val274Met)	RINL (V160M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 1269273	NC_000019.10:g.38878729T>G	LOC130064385, RINL +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 777530	NM_001195833.2(RINL):c.451+10G>A	RINL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
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 395304	GRCh37/hg19 19q13.2(chr19:39360343-39369195)x3	RINL, SIRT2	Copy number gain	See cases	GUncertain significance
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 53