"GeneDx"[submitter] AND "SIM1-AS1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58439	GRCh38/hg38 6q16.1-16.3(chr6:97853776-102580597)x1	ASCC3, CCNC +68 more	Copy number loss	See cases	GPathogenic
Select item 58440	GRCh38/hg38 6q16.1-16.3(chr6:98668529-101266950)x1	ASCC3, CCNC +53 more	Copy number loss	See cases	GPathogenic
Select item 451801	NM_005068.3(SIM1):c.1484C>A (p.Ala495Asp)	SIM1, SIM1-AS1 (A495D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303052	NM_005068.3(SIM1):c.1442C>A (p.Thr481Lys)	SIM1, SIM1-AS1 (T481K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878896	NM_005068.3(SIM1):c.1412_1413delinsTG (p.Arg471Leu)	SIM1, SIM1-AS1 (R471L)	Indel (missense variant)	not provided	GUncertain significance
Select item 1188137	NM_005068.3(SIM1):c.1412G>C (p.Arg471Pro)	SIM1, SIM1-AS1 (R471P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1693344	NM_005068.3(SIM1):c.1303G>T (p.Ala435Ser)	SIM1, SIM1-AS1 (A435S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580107	NM_005068.3(SIM1):c.1302C>A (p.Cys434Ter)	SIM1, SIM1-AS1 (C434*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 373292	NM_005068.3(SIM1):c.1298C>A (p.Ser433Ter)	SIM1, SIM1-AS1 (S433*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1801104	NM_005068.3(SIM1):c.1218G>C (p.Trp406Cys)	SIM1, SIM1-AS1 (W406C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1273936	NM_005068.3(SIM1):c.1167+174T>A	SIM1, SIM1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 354680	NM_005068.3(SIM1):c.1112C>T (p.Ala371Val)	SIM1-AS1, SIM1 (A371V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 354681	NM_005068.3(SIM1):c.1054C>A (p.Pro352Thr)	SIM1, SIM1-AS1 (P352T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3368679	NM_005068.3(SIM1):c.1033G>A (p.Asp345Asn)	SIM1, SIM1-AS1 (D345N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance