"GeneDx"[submitter] AND "LOC129933706"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 152843	GRCh38/hg38 2p16.3(chr2:47663853-47785728)x1	LOC129933700, LOC129933701 +9 more	Copy number loss	See cases	GPathogenic
Select item 89162	NM_000179.2(MSH6):c.-448G>A	LOC129933706, MSH6	Single nucleotide variant	Lynch syndrome	GBenign
Select item 1191613	NC_000002.12:g.47782889G>T	LOC129933706, MSH6	Single nucleotide variant	not provided	GLikely benign
Select item 1205129	NC_000002.12:g.47782946C>T	LOC129933706, MSH6	Single nucleotide variant	not provided	GLikely benign
Select item 89158	NM_000179.2(MSH6):c.-159C>T	LOC129933706, MSH6	Single nucleotide variant	Lynch syndrome	GBenign
Select item 386488	NM_000179.3(MSH6):c.-50C>G	LOC129933706, MSH6	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1200848	NM_000179.3(MSH6):c.-49T>G	LOC129933706, MSH6	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 508535	NM_000179.3(MSH6):c.-48T>A	LOC129933706, MSH6	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 381839	NM_000179.3(MSH6):c.-47T>C	LOC129933706, MSH6	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 385317	NM_000179.3(MSH6):c.-46T>G	LOC129933706, MSH6	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GLikely benign
Select item 391966	NM_000179.3(MSH6):c.-45A>T	LOC129933706, MSH6	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 378158	NM_000179.3(MSH6):c.-45A>G	LOC129933706, MSH6	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 418952	NM_000179.3(MSH6):c.-44G>T	LOC129933706, MSH6	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1245055	NM_000179.3(MSH6):c.-39T>C	LOC129933706, MSH6	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 380202	NM_000179.3(MSH6):c.-38C>G	LOC129933706, MSH6	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1221582	NM_000179.3(MSH6):c.-37C>T	LOC129933706, MSH6	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 379883	NM_000179.3(MSH6):c.-37C>A	LOC129933706, MSH6	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign