ClinVar for Gene (Select 10237) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3055762	NM_005827.4(SLC35B1):c.396G>A (p.Leu132=)	SLC35B1	Single nucleotide variant (synonymous variant)	SLC35B1-related condition	GLikely benign
Select item 3043947	NM_005827.4(SLC35B1):c.-107G>A	SLC35B1	Single nucleotide variant (5 prime UTR variant)	SLC35B1-related condition	GLikely benign
Select item 2692407	Single allele	ABI3, CACNA1G +45 more	Deletion	Tricho-dento-osseous syndrome +1 more	GPathogenic
Select item 2532693	NM_005827.4(SLC35B1):c.278C>G (p.Ser93Cys)	SLC35B1 (S26C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487923	NM_005827.4(SLC35B1):c.143C>T (p.Thr48Met)	SLC35B1 (T48M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486881	NM_005827.4(SLC35B1):c.322G>C (p.Val108Leu)	SLC35B1 (V41L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471169	NM_005827.4(SLC35B1):c.865G>A (p.Ala289Thr)	SLC35B1 (A222T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393631	NM_005827.4(SLC35B1):c.126A>C (p.Glu42Asp)	SLC35B1 (E42D)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356565	NM_005827.4(SLC35B1):c.272C>G (p.Ser91Cys)	SLC35B1 (S24C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315482	NM_005827.4(SLC35B1):c.719T>A (p.Ile240Asn)	SLC35B1 (I173N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313088	NM_005827.4(SLC35B1):c.893T>A (p.Val298Glu)	SLC35B1 (V298E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307786	NM_005827.4(SLC35B1):c.148A>G (p.Thr50Ala)	SLC35B1 (T50A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 815939	GRCh37/hg19 17q21.33(chr17:47689783-47791730)x1	SLC35B1, FAM117A +1 more	Copy number loss	not provided	GUncertain significance
Select item 444852	GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	HOXB3, HOXB4 +67 more	Copy number loss	not provided	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 151158	GRCh38/hg38 17q21.33(chr17:49361155-50269440)x1	COL1A1, DLX3 +74 more	Copy number loss	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 21