ClinVar for Gene (Select 222553) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319618	NM_001029858.4(SLC35F1):c.808C>T (p.His270Tyr)	SLC35F1 (H270Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319617	NM_001029858.4(SLC35F1):c.164T>C (p.Val55Ala)	SLC35F1 (V55A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319616	NM_001029858.4(SLC35F1):c.788T>C (p.Ile263Thr)	SLC35F1 (I263T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
Select item 3164411	NM_001029858.4(SLC35F1):c.896T>G (p.Phe299Cys)	SLC35F1 (F299C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164410	NM_001029858.4(SLC35F1):c.6C>G (p.Ile2Met)	SLC35F1 (I2M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164409	NM_001029858.4(SLC35F1):c.241A>G (p.Ser81Gly)	SLC35F1 (S81G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684452	GRCh37/hg19 6q22.2-22.31(chr6:118477336-118692304)x3	SLC35F1	Copy number gain	not provided	GUncertain significance
Select item 2672161	NM_001029858.4(SLC35F1):c.56C>G (p.Pro19Arg)	SLC35F1 (P19R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656881	NM_001029858.4(SLC35F1):c.1143G>A (p.Pro381=)	SLC35F1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2587994	NM_001029858.4(SLC35F1):c.904G>A (p.Val302Ile)	SLC35F1 (V302I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 2574685	GRCh37/hg19 6q21-22.31(chr6:112713854-124105184)	ASF1A, CALHM4 +39 more	Copy number loss	6q terminal deletion syndrome	GLikely pathogenic
Select item 2542463	NM_001029858.4(SLC35F1):c.1192G>C (p.Glu398Gln)	SLC35F1 (E398Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487680	NM_001029858.4(SLC35F1):c.377G>C (p.Arg126Pro)	SLC35F1 (R126P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479951	NM_001029858.4(SLC35F1):c.153G>T (p.Arg51Ser)	SLC35F1 (R51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475735	NM_001029858.4(SLC35F1):c.380G>A (p.Arg127Gln)	SLC35F1 (R127Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427242	NC_000006.11:g.(?_116441236)_(119252888_?)del	ASF1A, CALHM4 +24 more	Deletion	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 2346996	NM_001029858.4(SLC35F1):c.1127C>A (p.Pro376His)	SLC35F1 (P376H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346447	NM_001029858.4(SLC35F1):c.1112G>A (p.Arg371His)	SLC35F1 (R371H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320686	NM_001029858.4(SLC35F1):c.44C>T (p.Ser15Leu)	SLC35F1 (S15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298981	NM_001029858.4(SLC35F1):c.134G>A (p.Arg45Gln)	SLC35F1 (R45Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269665	NM_001029858.4(SLC35F1):c.1111C>T (p.Arg371Cys)	SLC35F1 (R371C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229041	NM_001029858.4(SLC35F1):c.859G>A (p.Val287Ile)	SLC35F1 (V287I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216663	NM_001029858.4(SLC35F1):c.10C>G (p.Pro4Ala)	SLC35F1 (P4A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807645	GRCh37/hg19 6q22.31(chr6:118621039-119065365)x3	CEP85L, PLN +1 more	Copy number gain	not provided	GUncertain significance
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 1691118	NM_001029858.4(SLC35F1):c.174-103551G>A	SLC35F1	Single nucleotide variant (intron variant)	Vascular endothelial growth factor (VEGF) inhibitor response	Gassociation
Select item 1684559	GRCh37/hg19 6q22.1-22.31(chr6:117951874-119112156)x1	CEP85L, NUS1 +2 more	Copy number loss	See cases	GUncertain significance
Select item 1527283	GRCh37/hg19 6q22.2-22.31(chr6:118490533-119281981)	ASF1A, CEP85L +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527278	GRCh37/hg19 6q22.1-22.31(chr6:116212698-119482708)	DCBLD1, DSE +26 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 1344658	NM_001029858.4(SLC35F1):c.878T>G (p.Met293Arg)	SLC35F1 (M293R)	Single nucleotide variant (missense variant)	Nephrotic syndrome	GUncertain significance
Select item 1341103	GRCh37/hg19 6q22.1-22.31(chr6:117441803-123349672)x3	ASF1A, CEP85L +18 more	Copy number gain	not provided	GLikely pathogenic
Select item 980778	GRCh37/hg19 6q22.2-22.31(chr6:118491531-118657622)x1	SLC35F1	Copy number loss	not provided	GUncertain significance
Select item 980777	GRCh37/hg19 6q22.1-22.31(chr6:118086621-118517929)x3	SLC35F1	Copy number gain	not provided	GUncertain significance
Select item 978186	NC_000006.11:g.116734559_123648104del	ASF1A, CALHM4 +31 more	Deletion	Seizure +1 more	GPathogenic
Select item 688010	GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1	AMD1, ASF1A +45 more	Copy number loss	not provided	GPathogenic
Select item 685998	GRCh37/hg19 6q22.1-22.31(chr6:117746455-118649226)x1	DCBLD1, GOPC +3 more	Copy number loss	not provided	GUncertain significance
Select item 563226	GRCh37/hg19 6q22.31(chr6:118605441-119145799)x3	MCM9, SLC35F1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
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 217142	GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1	NT5DC1, TRAPPC3L +36 more	Copy number loss	6q21-6q22.1 deletion	GLikely pathogenic
Select item 180228	NC_000006.11:g.(118410062_118436482)_(118604516_118635123)del	LOC105377967, LOC129997070 +1 more	Deletion	Global developmental delay +2 more	GUncertain significance
Select item 180227	NC_000006.11:g.(116681080_116735056)_(119687719_119775014)del	ASF1A, CALHM4 +22 more	Deletion	Tremor +3 more	GPathogenic
Select item 180225	NC_000006.11:g.(117961791_117961792)_(118280043_118280044)del	LOC101927919, LOC126859772 +5 more	Deletion	Intellectual disability +2 more	GPathogenic
Select item 180223	NC_000006.11:g.(117810940_117810996)_(119417693_119417749)del	ASF1A, CEP85L +7 more	Deletion	Generalized non-motor (absence) seizure +2 more	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 151218	GRCh38/hg38 6q22.1-22.31(chr6:116815199-119718887)x1	ASF1A, CEP85L +68 more	Copy number loss	See cases	GLikely pathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 148658	GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3	LOC129997072, LOC129997073 +147 more	Copy number gain	See cases	GPathogenic
Select item 146379	GRCh38/hg38 6q22.1-22.31(chr6:117706176-118397313)x3	LOC105377967, LOC126859772 +5 more	Copy number gain	See cases	GUncertain significance
Select item 146318	GRCh38/hg38 6q22.1-22.2(chr6:115326962-117935240)x1	CALHM4, CALHM5 +91 more	Copy number loss	See cases	GLikely pathogenic
Select item 59528	GRCh38/hg38 6q22.31(chr6:118229864-118723034)x3	CEP85L, LOC110121273 +10 more	Copy number gain	See cases	GUncertain significance
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 61