SMAD5[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	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
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 58363	GRCh38/hg38 5q31.1-31.2(chr5:135894042-137619032)x1	CTB-1I21.1, IL9 +32 more	Copy number loss	See cases	GPathogenic
Select item 2260688	NM_005903.7(SMAD5):c.50G>A (p.Arg17Gln)	LOC126807520, SMAD5 (R17Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232012	NM_005903.7(SMAD5):c.433A>G (p.Asn145Asp)	SMAD5 (N145D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166235	NM_005903.7(SMAD5):c.589C>T (p.Pro197Ser)	SMAD5 (P197S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166236	NM_005903.7(SMAD5):c.677A>G (p.Tyr226Cys)	SMAD5 (Y226C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541164	NM_005903.7(SMAD5):c.694C>G (p.Gln232Glu)	SMAD5 (Q232E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166237	NM_005903.7(SMAD5):c.701G>T (p.Gly234Val)	SMAD5 (G234V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319882	NM_005903.7(SMAD5):c.752T>C (p.Ile251Thr)	SMAD5 (I251T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396374	NM_005903.7(SMAD5):c.820A>G (p.Ile274Val)	SMAD5 (I274V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166238	NM_005903.7(SMAD5):c.968T>C (p.Ile323Thr)	SMAD5 (I323T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227552	NM_005903.7(SMAD5):c.1190A>G (p.Asn397Ser)	SMAD5 (N397S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527200	GRCh37/hg19 5q31.1(chr5:135396615-135680453)	SMAD5, TGFBI +2 more	Copy number gain	not specified	GUncertain significance
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 814747	GRCh37/hg19 5q31.1(chr5:135499647-135588586)x1	TRPC7, SMAD5	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	C5orf63, CXCL14 +385 more	Deletion	Familial adenomatous polyposis 1 +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 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

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Items: 27