ClinVar for Gene (Select 56934) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262568	NM_020178.5(CA10):c.718A>T (p.Thr240Ser)	CA10 (T240S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262567	NM_020178.5(CA10):c.385G>A (p.Glu129Lys)	CA10 (E129K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262566	NM_020178.5(CA10):c.194G>A (p.Arg65Gln)	CA10 (R65Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136113	NM_020178.5(CA10):c.779C>T (p.Thr260Ile)	CA10 (T260I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136112	NM_020178.5(CA10):c.593G>A (p.Arg198Gln)	CA10 (R198Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136111	NM_020178.5(CA10):c.271G>A (p.Gly91Ser)	CA10 (G91S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136110	NM_020178.5(CA10):c.269G>A (p.Gly90Glu)	CA10 (G90E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544630	NM_020178.5(CA10):c.500C>T (p.Thr167Met)	CA10 (T167M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518497	NM_020178.5(CA10):c.892C>T (p.Arg298Cys)	CA10 (R298C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497722	NM_020178.5(CA10):c.706G>A (p.Asp236Asn)	CA10 (D236N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2374877	NM_020178.5(CA10):c.212T>C (p.Ile71Thr)	CA10 (I71T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352958	NM_020178.5(CA10):c.749G>T (p.Trp250Leu)	CA10 (W250L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2325056	NM_020178.5(CA10):c.380G>A (p.Arg127Gln)	CA10 (R127Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318234	NM_020178.5(CA10):c.536T>G (p.Leu179Trp)	CA10 (L179W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316381	NM_020178.5(CA10):c.601A>G (p.Asn201Asp)	CA10 (N201D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215270	NM_020178.5(CA10):c.734A>G (p.Tyr245Cys)	CA10 (Y245C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980721	GRCh37/hg19 17q21.33-22(chr17:50198539-51590562)x1	CA10, LINC02876	Copy number loss	not provided	GUncertain significance
Select item 564452	GRCh37/hg19 17q21.33(chr17:49901770-49966972)x1	CA10	Copy number loss	not provided	GLikely benign
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 441849	GRCh37/hg19 17q21.33-22(chr17:49705772-50359611)x3	CA10	Copy number gain	See cases	GUncertain significance
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 144778	GRCh38/hg38 17q21.33-22(chr17:51990459-52697115)x3	CA10, LINC01982 +4 more	Copy number gain	See cases	GUncertain significance
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

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Links from Gene

Items: 29