FUT9[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	See cases	GPathogenic
Select item 151618	GRCh38/hg38 6q16.1(chr6:96044235-96075275)x3	FUT9	Copy number gain	See cases	GLikely benign
Select item 151608	GRCh38/hg38 6q16.1(chr6:96121255-96148537)x3	FUT9	Copy number gain	See cases	GLikely benign
Select item 3280230	NM_006581.4(FUT9):c.52A>G (p.Ile18Val)	FUT9, UFL1-AS1 (I18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251484	NM_006581.4(FUT9):c.102C>G (p.Asn34Lys)	FUT9, UFL1-AS1 (N34K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097540	NM_006581.4(FUT9):c.131C>A (p.Ala44Asp)	FUT9, UFL1-AS1 (A44D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225814	NM_006581.4(FUT9):c.284C>T (p.Thr95Met)	FUT9, UFL1-AS1 (T95M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471318	NM_006581.4(FUT9):c.341G>A (p.Ser114Asn)	FUT9, UFL1-AS1 (S114N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487603	NM_006581.4(FUT9):c.437G>C (p.Ser146Thr)	FUT9, UFL1-AS1 (S146T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280231	NM_006581.4(FUT9):c.464C>A (p.Thr155Asn)	FUT9, UFL1-AS1 (T155N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280233	NM_006581.4(FUT9):c.479G>A (p.Arg160His)	FUT9, UFL1-AS1 (R160H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097541	NM_006581.4(FUT9):c.593C>T (p.Pro198Leu)	FUT9, UFL1-AS1 (P198L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280229	NM_006581.4(FUT9):c.916G>A (p.Asp306Asn)	FUT9, UFL1-AS1 (D306N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312424	NM_006581.4(FUT9):c.983G>A (p.Arg328Gln)	FUT9, UFL1-AS1 (R328Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062939	GRCh37/hg19 6q15-16.3(chr6:91677067-101879124)x3	ASCC3, CCNC +20 more	Copy number gain	not specified	GUncertain significance
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 1807838	GRCh37/hg19 6q16.1-21(chr6:96596732-105554568)x1	ASCC3, BVES +21 more	Copy number loss	not provided	GPathogenic
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527267	GRCh37/hg19 6q15-16.3(chr6:92576950-104658245)	ASCC3, CCNC +20 more	Copy number loss	not specified	GPathogenic
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	AFG1L, AK9 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 974789	GRCh37/hg19 6q16.1(chr6:96028232-97247130)x1	MANEA, UFL1 +3 more	Copy number loss	Microcephaly +1 more	GLikely pathogenic
Select item 563205	GRCh37/hg19 6q16.1(chr6:96400642-96651526)x3	FUT9	Copy number gain	not provided	GUncertain significance
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	not provided	GPathogenic
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	ZBTB24, AFG1L +49 more	Copy number loss	See cases	GPathogenic

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Items: 29