"GeneDx"[submitter] AND "LOC129933707"[gene] - ClinVar

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Items: 21

	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 184546	NM_000179.3(MSH6):c.246T>C (p.Pro82=)	LOC129933707, MSH6	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GLikely benign
Select item 419824	NM_000179.3(MSH6):c.248C>A (p.Ala83Asp)	LOC129933707, MSH6 (A83D)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome +4 more	GUncertain significance
Select item 234750	NM_000179.3(MSH6):c.248C>G (p.Ala83Gly)	LOC129933707, MSH6 (A83G)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 418319	NM_000179.3(MSH6):c.255del (p.Thr86fs)	LOC129933707, MSH6 (T86fs)	Deletion (frameshift variant +2 more)	Lynch syndrome 5 +1 more	GPathogenic
Select item 237159	NM_000179.3(MSH6):c.251C>T (p.Ala84Val)	LOC129933707, MSH6 (A84V)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 219868	NM_000179.3(MSH6):c.253C>T (p.Pro85Ser)	LOC129933707, MSH6 (P85S)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 5 +3 more	GUncertain significance
Select item 410529	NM_000179.3(MSH6):c.254C>T (p.Pro85Leu)	LOC129933707, MSH6 (P85L)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 184666	NM_000179.3(MSH6):c.255C>G (p.Pro85=)	LOC129933707, MSH6	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 89288	NM_000179.3(MSH6):c.255C>A (p.Pro85=)	LOC129933707, MSH6	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GBenign/Likely benign
Select item 966333	NM_000179.3(MSH6):c.257C>G (p.Thr86Ser)	LOC129933707, MSH6 (T86S)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 480918	NM_000179.3(MSH6):c.257C>T (p.Thr86Ile)	LOC129933707, MSH6 (T86I)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 419538	NM_000179.3(MSH6):c.259A>T (p.Ser87Cys)	LOC129933707, MSH6 (S87C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 428349	NM_000179.3(MSH6):c.260G>C (p.Ser87Thr)	LOC129933707, MSH6 (S87T)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma +3 more	GConflicting classifications of pathogenicity
Select item 419737	NM_000179.3(MSH6):c.260+2_260+3delinsAG	LOC129933707, MSH6	Indel (splice donor variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GPathogenic/Likely pathogenic
Select item 422685	NM_000179.3(MSH6):c.260+4_260+5delinsTT	LOC129933707, MSH6	Indel (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 379551	NM_000179.3(MSH6):c.260+7G>A	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 36586	NM_000179.3(MSH6):c.260+10T>G	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 381471	NM_000179.3(MSH6):c.260+17G>A	LOC129933707, MSH6	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 89295	NM_000179.3(MSH6):c.260+22C>G	LOC129933707, MSH6	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign

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Items: 21