"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SIX2"[g - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 633690	NM_016932.5(SIX2):c.859G>A (p.Val287Met)	SIX2 (V287M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009851	NM_016932.5(SIX2):c.837C>T (p.Leu279=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2049895	NM_016932.5(SIX2):c.822G>T (p.Leu274=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1922276	NM_016932.5(SIX2):c.798C>T (p.Asp266=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2046846	NM_016932.5(SIX2):c.795G>A (p.Ala265=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2062897	NM_016932.5(SIX2):c.791G>A (p.Gly264Glu)	SIX2 (G264E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969591	NM_016932.5(SIX2):c.783C>T (p.Gly261=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1936717	NM_016932.5(SIX2):c.781G>A (p.Gly261Ser)	SIX2 (G261S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1569693	NM_016932.5(SIX2):c.774G>C (p.Pro258=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2185533	NM_016932.5(SIX2):c.773C>T (p.Pro258Leu)	SIX2 (P258L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2049063	NM_016932.5(SIX2):c.764T>C (p.Val255Ala)	SIX2 (V255A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2782068	NM_016932.5(SIX2):c.762A>T (p.Ala254=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1942436	NM_016932.5(SIX2):c.750G>C (p.Pro250=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961892	NM_016932.5(SIX2):c.723G>A (p.Pro241=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1318082	NM_016932.5(SIX2):c.722C>T (p.Pro241Leu)	SIX2 (P241L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 224349	NM_016932.5(SIX2):c.707C>T (p.Pro236Leu)	SIX2 (P236L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2184901	NM_016932.5(SIX2):c.705G>A (p.Pro235=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2634456	NM_016932.5(SIX2):c.704C>T (p.Pro235Leu)	SIX2 (P235L)	Single nucleotide variant (missense variant)	SIX2-related disorder +2 more	GUncertain significance
Select item 2183703	NM_016932.5(SIX2):c.694C>A (p.Leu232Ile)	SIX2 (L232I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1897847	NM_016932.5(SIX2):c.687C>T (p.Pro229=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071511	NM_016932.5(SIX2):c.659G>T (p.Gly220Val)	SIX2 (G220V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2171566	NM_016932.5(SIX2):c.621G>A (p.Ser207=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906746	NM_016932.5(SIX2):c.599C>T (p.Pro200Leu)	SIX2 (P200L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949132	NM_016932.5(SIX2):c.580A>G (p.Asn194Asp)	SIX2 (N194D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1898734	NM_016932.5(SIX2):c.565AAC[1] (p.Asn190del)	SIX2 (N190del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2876736	NM_016932.5(SIX2):c.568A>G (p.Asn190Asp)	SIX2 (N190D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716625	NM_016932.5(SIX2):c.561-10G>A	SIX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922578	NM_016932.5(SIX2):c.561-11C>T	SIX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2141170	NM_016932.5(SIX2):c.546C>G (p.Ala182=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695637	NM_016932.5(SIX2):c.482C>G (p.Thr161Arg)	SIX2 (T161R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2729397	NM_016932.5(SIX2):c.354G>C (p.Pro118=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650867	NM_016932.5(SIX2):c.282G>A (p.Glu94=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989164	NM_016932.5(SIX2):c.252G>A (p.Gln84=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1944469	NM_016932.5(SIX2):c.171C>T (p.Ala57=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2080917	NM_016932.5(SIX2):c.126C>G (p.His42Gln)	SIX2 (H42Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1942860	NM_016932.5(SIX2):c.123G>A (p.Glu41=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795417	NM_016932.5(SIX2):c.88C>T (p.Leu30=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885927	NM_016932.5(SIX2):c.45G>T (p.Ala15=)	SIX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007252	NM_016932.5(SIX2):c.1A>G (p.Met1Val)	SIX2 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3247230	NC_000002.11:g.(?_44001278)_(45236249_?)del	ABCG5, ABCG8 +8 more	Deletion	Holoprosencephaly 2	GPathogenic
Select item 2425348	NC_000002.11:g.(?_45169244)_(45236249_?)dup	SIX2, SIX3	Duplication	not provided	GUncertain significance
Select item 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	CAMKMT, CDKL4 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 429039	NC_000002.11:g.38121110_47669522inv	HNRNPLL, KCNG3 +52 more	Inversion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic

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Items: 43