NDFIP1[gene] - ClinVar

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Items: 23

	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 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 147816	GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1	ARAP3, DELE1 +123 more	Copy number loss	See cases	GUncertain significance
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 2261947	NM_030571.4(NDFIP1):c.29C>T (p.Ala10Val)	NDFIP1 (A10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466874	NM_030571.4(NDFIP1):c.148G>A (p.Ala50Thr)	NDFIP1 (A50T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298959	NM_030571.4(NDFIP1):c.283G>A (p.Asp95Asn)	NDFIP1 (D95N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329272	NM_030571.4(NDFIP1):c.430G>T (p.Ala144Ser)	NDFIP1 (A144S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708909	NM_030571.4(NDFIP1):c.525T>C (p.Asp175=)	NDFIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2325918	NM_030571.4(NDFIP1):c.608G>T (p.Arg203Leu)	NDFIP1 (R203L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807603	GRCh37/hg19 5q31.3(chr5:141441289-141689121)x3	NDFIP1	Copy number gain	not provided	GUncertain significance
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 563111	GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1	PCDHA13, PCDHGB5 +92 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCNI2, FAM13B +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 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

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Items: 23