"GeneDx"[submitter] AND "SASS6"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +195 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 1258431	NM_194292.3(SASS6):c.1773-255T>C	SASS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271920	NM_194292.3(SASS6):c.1674+261_1674+262dup	SASS6	Duplication (intron variant)	not provided	GBenign
Select item 1271552	NM_194292.3(SASS6):c.1674+261dup	SASS6	Duplication (intron variant)	not provided	GBenign
Select item 1238446	NM_194292.3(SASS6):c.1674+279del	SASS6	Deletion (intron variant)	not provided	GBenign
Select item 1231869	NM_194292.3(SASS6):c.1546-120G>C	SASS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236778	NM_194292.3(SASS6):c.1545+315C>T	SASS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252651	NM_194292.3(SASS6):c.1409-249A>G	SASS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238361	NM_194292.3(SASS6):c.1408+9G>A	SASS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182149	NM_194292.3(SASS6):c.1326+47G>C	SASS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270841	NM_194292.3(SASS6):c.1057-37A>C	SASS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295133	NM_194292.3(SASS6):c.933C>T (p.His311=)	SASS6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1221900	NM_194292.3(SASS6):c.862-305A>T	SASS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282328	NM_194292.3(SASS6):c.861+232C>T	SASS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265415	NM_194292.3(SASS6):c.861+169A>G	SASS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263477	NM_194292.3(SASS6):c.776C>T (p.Ala259Val)	SASS6 (A259V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2663708	NM_194292.3(SASS6):c.763_766del (p.Ser255_Glu256insTer)	SASS6	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1232620	NM_194292.3(SASS6):c.669+258_669+259del	SASS6	Microsatellite (intron variant)	not provided	GBenign
Select item 1278188	NM_194292.3(SASS6):c.550-53T>G	SASS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252429	NM_194292.3(SASS6):c.549+279G>A	SASS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262791	NM_194292.3(SASS6):c.549+232C>T	SASS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239097	NM_194292.3(SASS6):c.549+21T>C	SASS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295145	NM_194292.3(SASS6):c.484-117G>C	SASS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234618	NM_194292.3(SASS6):c.483+229A>G	SASS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246664	NM_194292.3(SASS6):c.312-41A>G	SASS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296051	NM_194292.3(SASS6):c.312-145T>G	SASS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267622	NM_194292.3(SASS6):c.207-86dup	SASS6	Duplication (intron variant)	not provided	GBenign
Select item 1261809	NM_194292.3(SASS6):c.207-86_207-85dup	SASS6	Duplication (intron variant)	not provided	GBenign
Select item 1244770	NM_194292.3(SASS6):c.206+232dup	SASS6	Duplication (intron variant)	not provided	GBenign
Select item 1225884	NM_194292.3(SASS6):c.206+192A>G	SASS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247166	NM_194292.3(SASS6):c.126+212del	SASS6	Deletion (intron variant)	not provided	GBenign
Select item 1276349	NM_194292.3(SASS6):c.65+7T>C	SASS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233248	NM_194292.3(SASS6):c.-69C>G	SASS6	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1233160	NC_000001.11:g.100133310G>A	SASS6, TRMT13 (A48T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1295596	NC_000001.11:g.100133311C>T	SASS6, TRMT13 (A48V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign

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Items: 36