ClinVar for Gene (Select 4830) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3052782	NM_001018136.3(NME1-NME2):c.21C>A (p.Thr7=)	NME1, NME1-NME2	Single nucleotide variant (synonymous variant +1 more)	NME1-NME2-related disorder	GLikely benign
Select item 2688272	NM_000269.3(NME1):c.-5+600C>G	NME1, NME1-NME2	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GBenign
Select item 2688180	NM_000269.3(NME1):c.342-53C>A	NME1, NME1-NME2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688150	NM_000269.3(NME1):c.-5+604G>A	NME1, NME1-NME2	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GBenign
Select item 2592832	NM_000269.3(NME1):c.428C>T (p.Thr143Met)	NME1, NME1-NME2 (T143M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2234604	NM_000269.3(NME1):c.452A>G (p.Tyr151Cys)	NME1, NME1-NME2 (Y151C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1049321	NM_000269.3(NME1):c.-5+762del	NME1, NME1-NME2 (I18fs)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 727415	NM_000269.3(NME1):c.341+10T>G	NME1, NME1-NME2	Single nucleotide variant (intron variant)	not provided	GBenign
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	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +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 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	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	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic