ClinVar for Gene (Select 84912) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319573	NM_032826.5(SLC35B4):c.483A>T (p.Leu161Phe)	SLC35B4 (L161F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164346	NM_032826.5(SLC35B4):c.722T>C (p.Phe241Ser)	SLC35B4 (F241S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 2531922	NM_032826.5(SLC35B4):c.752A>G (p.Tyr251Cys)	SLC35B4 (Y251C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494464	NM_032826.5(SLC35B4):c.4C>T (p.Arg2Cys)	LOC129999393, SLC35B4 (R2C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 2405024	NM_032826.5(SLC35B4):c.679T>C (p.Tyr227His)	SLC35B4 (Y227H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400535	NM_032826.5(SLC35B4):c.691G>A (p.Val231Ile)	SLC35B4 (V231I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392565	NM_032826.5(SLC35B4):c.622G>A (p.Val208Ile)	SLC35B4 (V208I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364225	NM_032826.5(SLC35B4):c.782C>G (p.Thr261Ser)	SLC35B4 (T261S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341323	NM_032826.5(SLC35B4):c.173C>T (p.Pro58Leu)	SLC35B4 (P58L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328911	NM_032826.5(SLC35B4):c.826C>T (p.Arg276Cys)	SLC35B4 (R276C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282643	NM_032826.5(SLC35B4):c.814G>A (p.Val272Ile)	SLC35B4 (V272I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282110	NM_032826.5(SLC35B4):c.805G>A (p.Val269Ile)	SLC35B4 (V269I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270005	NM_032826.5(SLC35B4):c.773T>G (p.Phe258Cys)	SLC35B4 (F258C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237244	NM_032826.5(SLC35B4):c.966T>A (p.Ser322Arg)	SLC35B4 (S322R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234430	NM_032826.5(SLC35B4):c.811C>T (p.Leu271Phe)	SLC35B4 (L271F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527395	GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)	CHCHD3, CHRM2 +88 more	Copy number loss	not specified	GPathogenic
Select item 1527394	GRCh37/hg19 7q31.33-33(chr7:124103982-134693590)	BPGM, CALD1 +65 more	Copy number loss	not specified	GPathogenic
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	BPGM, SLC35B4 +105 more	Copy number loss	Abnormal facial shape +7 more	GPathogenic
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815041	GRCh37/hg19 7q33(chr7:133948073-134004076)x1	SLC35B4, LRGUK	Copy number loss	not provided	GUncertain significance
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 689119	GRCh37/hg19 7q33(chr7:133895591-134317660)x1	AKR1B1, AKR1B10 +3 more	Copy number loss	not provided	GUncertain significance
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 617479	Single allele	DGKI, SVOPL +74 more	Complex	Renal transitional cell carcinoma	GLikely pathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563417	GRCh37/hg19 7q33(chr7:133230189-137972605)x1	AKR1B10, STRA8 +24 more	Copy number loss	not provided	GPathogenic
Select item 563388	GRCh37/hg19 7q33(chr7:133064191-134008520)x3	EXOC4, LOC101928861 +2 more	Copy number gain	not provided	GLikely benign
Select item 443243	GRCh37/hg19 7q33(chr7:133603973-134129003)x3	AKR1B1, EXOC4 +2 more	Copy number gain	See cases	GLikely benign
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395363	GRCh37/hg19 7q32.3-34(chr7:131642114-139107211)x1	AGBL3, AKR1B1 +38 more	Copy number loss	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 57331	GRCh38/hg38 7q33(chr7:133385456-134378422)x3	EXOC4, LOC101928861 +15 more	Copy number gain	See cases	GUncertain significance
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 52