ClinVar for Gene (Select 81555) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3191526	NM_030799.9(YIPF5):c.8G>T (p.Gly3Val)	YIPF5 (G3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191525	NM_030799.9(YIPF5):c.733G>A (p.Ala245Thr)	YIPF5 (A245T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191524	NM_030799.9(YIPF5):c.614G>A (p.Gly205Glu)	YIPF5 (G151E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191523	NM_030799.9(YIPF5):c.578T>C (p.Leu193Pro)	YIPF5 (L139P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191522	NM_030799.9(YIPF5):c.536G>T (p.Cys179Phe)	YIPF5 (C179F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191521	NM_030799.9(YIPF5):c.328G>A (p.Val110Ile)	LOC126807536, YIPF5 (V110I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191518	NM_030799.9(YIPF5):c.157C>G (p.Pro53Ala)	YIPF5 (P53A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062812	GRCh37/hg19 5q31.3-32(chr5:141566629-147240595)x1	ARHGAP26, DPYSL3 +19 more	Copy number loss	not specified	GPathogenic
Select item 2684433	GRCh37/hg19 5q31.3(chr5:143365723-144316737)x3	KCTD16, YIPF5	Copy number gain	not provided	GUncertain significance
Select item 2655875	NM_030799.9(YIPF5):c.227C>T (p.Ala76Val)	YIPF5 (A22V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2655874	NM_030799.9(YIPF5):c.766G>A (p.Val256Ile)	YIPF5 (V202I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2498985	NM_030799.9(YIPF5):c.1A>G (p.Met1Val)	YIPF5 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2496018	NM_030799.9(YIPF5):c.515T>C (p.Met172Thr)	YIPF5 (M118T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484796	NM_030799.9(YIPF5):c.59A>G (p.Asp20Gly)	YIPF5 (D20G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477096	NM_030799.9(YIPF5):c.303C>G (p.Asp101Glu)	LOC126807536, YIPF5 (D101E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2438632	NM_030799.9(YIPF5):c.524T>A (p.Val175Asp)	YIPF5 (V121D +1 more)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome 2	GUncertain significance
Select item 2375259	NM_030799.9(YIPF5):c.635C>A (p.Thr212Asn)	YIPF5 (T212N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352227	NM_030799.9(YIPF5):c.364A>G (p.Met122Val)	LOC126807536, YIPF5 (M122V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289432	NM_030799.9(YIPF5):c.134C>G (p.Ser45Trp)	YIPF5 (S45W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227199	NM_030799.9(YIPF5):c.151G>A (p.Val51Ile)	YIPF5 (V51I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1064546	NM_030799.9(YIPF5):c.290G>T (p.Gly97Val)	LOC126807536, YIPF5 (G97V +1 more)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome 2	GPathogenic
Select item 1064545	NM_030799.9(YIPF5):c.652T>A (p.Trp218Arg)	YIPF5 (W218R +1 more)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome 2	GPathogenic
Select item 1064544	NM_030799.9(YIPF5):c.293T>G (p.Ile98Ser)	LOC126807536, YIPF5 (I98S +1 more)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome 2	GPathogenic
Select item 1064543	NM_030799.9(YIPF5):c.317_319del (p.Lys106del)	LOC126807536, YIPF5 (K106del +1 more)	Deletion (inframe_deletion)	Microcephaly, epilepsy, and diabetes syndrome 2	GPathogenic
Select item 1064542	NM_030799.9(YIPF5):c.542C>T (p.Ala181Val)	YIPF5 (A181V +1 more)	Single nucleotide variant (missense variant)	Microcephaly, epilepsy, and diabetes syndrome 2	GPathogenic
Select item 687529	GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3	ABLIM3, ADRB2 +92 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARSK, CSNK1G3 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442272	GRCh37/hg19 5q31.3-32(chr5:141113273-149154835)x1	ABLIM3, ADRB2 +48 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 147800	GRCh38/hg38 5q31.3(chr5:144019753-144858721)x3	KCTD16, LOC126807536 +6 more	Copy number gain	See cases	GUncertain significance
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 40