ClinVar for Gene (Select 516) - ClinVar - NCBI

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Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063504	GRCh37/hg19 17q21.32(chr17:46867374-46972775)x3	ATP5MC1, CALCOCO2 +1 more	Copy number gain	not specified	GUncertain significance
Select item 2692407	Single allele	ABI3, CACNA1G +45 more	Deletion	Tricho-dento-osseous syndrome +1 more	GPathogenic
Select item 2516278	NM_005175.3(ATP5MC1):c.182G>A (p.Arg61Gln)	ATP5MC1, LOC105371814 (R61Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1807609	GRCh37/hg19 17q21.32-21.33(chr17:46753824-47577721)x3	ABI3, ATP5MC1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 688814	GRCh37/hg19 17q21.32-21.33(chr17:46899690-47540874)x3	ABI3, ATP5MC1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 688217	GRCh37/hg19 17q21.32(chr17:46874271-47158974)x3	ATP5MC1, CALCOCO2 +5 more	Copy number gain	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 155384	GRCh38/hg38 17q21.32-21.33(chr17:48450628-49552921)x3	ABI3, ATP5MC1 +92 more	Copy number gain	See cases	GUncertain significance
Select item 154833	GRCh38/hg38 17q21.32-21.33(chr17:47986886-49329397)x1	ABI3, ATP5MC1 +99 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 59588	GRCh38/hg38 17q21.32-21.33(chr17:48520885-49511208)x1	LOC130061104, LOC130061105 +87 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