ClinVar for Gene (Select 113829) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3444043	NM_080670.4(SLC35A4):c.461C>A (p.Ala154Asp)	LOC131768270, SLC35A4 (A154D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3444042	NM_080670.4(SLC35A4):c.314A>G (p.Tyr105Cys)	LOC131768270, SLC35A4 (Y105C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3444041	NM_080670.4(SLC35A4):c.251G>T (p.Arg84Leu)	LOC131768270, SLC35A4 (R84L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3444040	NM_080670.4(SLC35A4):c.908C>T (p.Thr303Ile)	LOC131768270, SLC35A4 (T303I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3444039	NM_080670.4(SLC35A4):c.176T>C (p.Leu59Pro)	LOC131768270, SLC35A4 (L59P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3444038	NM_080670.4(SLC35A4):c.640C>T (p.Arg214Trp)	LOC131768270, SLC35A4 (R214W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3444037	NM_080670.4(SLC35A4):c.404G>A (p.Arg135Gln)	LOC131768270, SLC35A4 (R135Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319556	NM_080670.4(SLC35A4):c.641G>A (p.Arg214Gln)	LOC131768270, SLC35A4 (R214Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319555	NM_080670.4(SLC35A4):c.403C>T (p.Arg135Trp)	LOC131768270, SLC35A4 (R135W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319554	NM_080670.4(SLC35A4):c.199T>C (p.Phe67Leu)	LOC131768270, SLC35A4 (F67L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164320	NM_080670.4(SLC35A4):c.839T>G (p.Leu280Arg)	LOC131768270, SLC35A4 (L280R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164319	NM_080670.4(SLC35A4):c.796C>T (p.Leu266Phe)	LOC131768270, SLC35A4 (L266F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164318	NM_080670.4(SLC35A4):c.712G>T (p.Gly238Cys)	LOC131768270, SLC35A4 (G238C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164316	NM_080670.4(SLC35A4):c.448A>C (p.Met150Leu)	LOC131768270, SLC35A4 (M150L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164315	NM_080670.4(SLC35A4):c.322C>T (p.Arg108Cys)	LOC131768270, SLC35A4 (R108C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164314	NM_080670.4(SLC35A4):c.193T>C (p.Cys65Arg)	LOC131768270, SLC35A4 (C65R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164313	NM_080670.4(SLC35A4):c.152C>T (p.Ser51Phe)	LOC131768270, SLC35A4 (S51F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597425	NM_080670.4(SLC35A4):c.434C>T (p.Ala145Val)	LOC131768270, SLC35A4 (A145V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588771	NM_080670.4(SLC35A4):c.635G>A (p.Arg212Gln)	LOC131768270, SLC35A4 (R212Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560498	NM_080670.4(SLC35A4):c.722C>T (p.Ser241Phe)	LOC131768270, SLC35A4 (S241F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425421	NC_000005.9:g.(?_136957787)_(140078137_?)dup	ANKHD1, ANKHD1-EIF4EBP3 +53 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2424471	NC_000005.9:g.(?_139930285)_(140078137_?)del	APBB3, CD14 +9 more	Deletion	not provided	GUncertain significance
Select item 2355291	NM_080670.4(SLC35A4):c.896G>A (p.Arg299Gln)	LOC131768270, SLC35A4 (R299Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354652	NM_080670.4(SLC35A4):c.712G>A (p.Gly238Ser)	LOC131768270, SLC35A4 (G238S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339787	NM_080670.4(SLC35A4):c.610G>C (p.Val204Leu)	LOC131768270, SLC35A4 (V204L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309421	NM_080670.4(SLC35A4):c.524C>T (p.Ala175Val)	LOC131768270, SLC35A4 (A175V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294261	NM_080670.4(SLC35A4):c.857C>T (p.Ser286Leu)	LOC131768270, SLC35A4 (S286L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286401	NM_080670.4(SLC35A4):c.130G>A (p.Gly44Ser)	LOC131768270, SLC35A4 (G44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281859	NM_080670.4(SLC35A4):c.574C>G (p.Leu192Val)	LOC131768270, SLC35A4 (L192V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278042	NM_080670.4(SLC35A4):c.724G>C (p.Gly242Arg)	LOC131768270, SLC35A4 (G242R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256185	NM_080670.4(SLC35A4):c.140C>G (p.Pro47Arg)	LOC131768270, SLC35A4 (P47R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247229	NM_080670.4(SLC35A4):c.488T>A (p.Val163Asp)	LOC131768270, SLC35A4 (V163D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2223432	NM_080670.4(SLC35A4):c.251G>A (p.Arg84His)	LOC131768270, SLC35A4 (R84H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223349	NM_080670.4(SLC35A4):c.170C>T (p.Thr57Ile)	LOC131768270, SLC35A4 (T57I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206333	NM_080670.4(SLC35A4):c.494G>A (p.Gly165Glu)	LOC131768270, SLC35A4 (G165E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330185	GRCh37/hg19 5q31.2-31.3(chr5:139493717-140517454)x1	PCDHA2, PCDHA6 +44 more	Copy number loss	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	APBB3, BRD8 +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 686048	GRCh37/hg19 5q31.2-31.3(chr5:139447779-140047037)x3	ANKHD1, ANKHD1-EIF4EBP3 +15 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	CCDC69, CCNH +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
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 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
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: 51