SASS6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
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 720743	NM_194292.3(SASS6):c.1935G>A (p.Ala645=)	SASS6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 747506	NM_194292.3(SASS6):c.1921G>A (p.Ala641Thr)	SASS6 (A474T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2332081	NM_194292.3(SASS6):c.1874A>C (p.Gln625Pro)	SASS6 (Q458P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 977772	NM_194292.3(SASS6):c.1867+2T>A	SASS6	Single nucleotide variant (splice donor variant)	Microcephaly 14, primary, autosomal recessive	GPathogenic
Select item 734406	NM_194292.3(SASS6):c.1835G>A (p.Arg612His)	SASS6 (R445H +1 more)	Single nucleotide variant (missense variant)	Microcephaly 14, primary, autosomal recessive +2 more	GBenign
Select item 2410936	NM_194292.3(SASS6):c.1834C>T (p.Arg612Cys)	SASS6 (R445C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624368	NM_194292.3(SASS6):c.1783G>A (p.Val595Ile)	SASS6 (V595I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 757403	NM_194292.3(SASS6):c.1773-4T>G	SASS6	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1258431	NM_194292.3(SASS6):c.1773-255T>C	SASS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3157912	NM_194292.3(SASS6):c.1729T>G (p.Ser577Ala)	SASS6 (S577A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 796283	NM_194292.3(SASS6):c.1692G>A (p.Gln564=)	SASS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 726913	NM_194292.3(SASS6):c.1674+3A>G	SASS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2240684	NM_194292.3(SASS6):c.1667G>A (p.Gly556Glu)	SASS6 (G389E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 436634	NM_194292.3(SASS6):c.1571C>G (p.Thr524Ser)	SASS6 (T524S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2385266	NM_194292.3(SASS6):c.1543G>A (p.Val515Met)	SASS6 (V515M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256353	NM_194292.3(SASS6):c.1504A>T (p.Ser502Cys)	SASS6 (S502C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316194	NM_194292.3(SASS6):c.1487C>T (p.Pro496Leu)	SASS6 (P329L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224400	NM_194292.3(SASS6):c.1486C>A (p.Pro496Thr)	SASS6 (P496T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 729735	NM_194292.3(SASS6):c.1408+7A>G	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 2605851	NM_194292.3(SASS6):c.1283A>G (p.Glu428Gly)	SASS6 (E261G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521498	NM_194292.3(SASS6):c.1186dup (p.Thr396fs)	SASS6 (T396fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3157911	NM_194292.3(SASS6):c.1141C>G (p.Leu381Val)	SASS6 (L214V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1802193	NM_194292.3(SASS6):c.1057-6_1057-2del	SASS6	Deletion (splice acceptor variant)	Microcephaly 14, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 723976	NM_194292.3(SASS6):c.1057-5A>G	SASS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 742513	NM_194292.3(SASS6):c.1057-7A>G	SASS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270841	NM_194292.3(SASS6):c.1057-37A>C	SASS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 377058	NM_194292.3(SASS6):c.1036G>T (p.Asp346Tyr)	SASS6 (D346Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3157917	NM_194292.3(SASS6):c.937A>G (p.Lys313Glu)	SASS6 (K146E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1295133	NM_194292.3(SASS6):c.933C>T (p.His311=)	SASS6	Single nucleotide variant (synonymous variant)	SASS6-related disorder +1 more	GBenign
Select item 2235614	NM_194292.3(SASS6):c.921T>G (p.Asp307Glu)	SASS6 (D307E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 711964	NM_194292.3(SASS6):c.921T>C (p.Asp307=)	SASS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 792359	NM_194292.3(SASS6):c.918A>G (p.Leu306=)	SASS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720071	NM_194292.3(SASS6):c.873G>C (p.Arg291=)	SASS6	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2383752	NM_194292.3(SASS6):c.872G>A (p.Arg291Gln)	SASS6 (R291Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265754	NM_194292.3(SASS6):c.862-5T>C	SASS6	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 718140	NM_194292.3(SASS6):c.862-9C>T	SASS6	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2408126	NM_194292.3(SASS6):c.838G>A (p.Ala280Thr)	SASS6 (A280T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316196	NM_194292.3(SASS6):c.821C>T (p.Thr274Ile)	SASS6 (T274I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157916	NM_194292.3(SASS6):c.796G>A (p.Glu266Lys)	SASS6 (E99K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3050217	NM_194292.3(SASS6):c.795C>T (p.Thr265=)	SASS6	Single nucleotide variant (synonymous variant)	SASS6-related disorder	GLikely benign
Select item 720255	NM_194292.3(SASS6):c.779C>T (p.Ala260Val)	SASS6 (A93V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2378989	NM_194292.3(SASS6):c.778G>A (p.Ala260Thr)	SASS6 (A260T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 740521	NM_194292.3(SASS6):c.768G>A (p.Glu256=)	SASS6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731580	NM_194292.3(SASS6):c.768G>C (p.Glu256Asp)	SASS6 (E256D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2663708	NM_194292.3(SASS6):c.763_766del (p.Ser255_Glu256insTer)	SASS6	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 781776	NM_194292.3(SASS6):c.735A>G (p.Gln245=)	SASS6	Single nucleotide variant (synonymous variant)	Microcephaly 14, primary, autosomal recessive +2 more	GBenign
Select item 2394341	NM_194292.3(SASS6):c.728A>G (p.His243Arg)	SASS6 (H76R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1232620	NM_194292.3(SASS6):c.669+258_669+259del	SASS6	Microsatellite (intron variant)	not provided	GBenign
Select item 3157915	NM_194292.3(SASS6):c.662C>G (p.Ala221Gly)	SASS6 (A221G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 712420	NM_194292.3(SASS6):c.600G>A (p.Ala200=)	SASS6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3157914	NM_194292.3(SASS6):c.598G>A (p.Ala200Thr)	SASS6 (A33T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369324	NM_194292.3(SASS6):c.587G>A (p.Arg196Gln)	SASS6 (R29Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157913	NM_194292.3(SASS6):c.586C>T (p.Arg196Trp)	SASS6 (R196W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358844	NM_194292.3(SASS6):c.560A>G (p.Glu187Gly)	SASS6 (E20G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
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 2241231	NM_194292.3(SASS6):c.512T>C (p.Leu171Pro)	SASS6 (L4P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506119	NM_194292.3(SASS6):c.497C>A (p.Ser166Ter)	SASS6 (S166*)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly 14, primary, autosomal recessive	GLikely pathogenic
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 3316195	NM_194292.3(SASS6):c.460G>A (p.Ala154Thr)	SASS6 (A154T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 718972	NM_194292.3(SASS6):c.369A>G (p.Leu123=)	SASS6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2362111	NM_194292.3(SASS6):c.350A>G (p.Asp117Gly)	SASS6 (D117G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 738128	NM_194292.3(SASS6):c.312-4A>C	SASS6	Single nucleotide variant (intron variant)	Microcephaly 14, primary, autosomal recessive +2 more	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 3316197	NM_194292.3(SASS6):c.295G>A (p.Ala99Thr)	SASS6 (A99T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3053864	NM_194292.3(SASS6):c.213A>G (p.Lys71=)	SASS6	Single nucleotide variant (5 prime UTR variant +1 more)	SASS6-related disorder	GLikely benign
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 192231	NM_194292.3(SASS6):c.185T>C (p.Ile62Thr)	SASS6 (I62T)	Single nucleotide variant (missense variant +1 more)	Microcephaly 14, primary, autosomal recessive	GPathogenic
Select item 977344	NM_194292.3(SASS6):c.170dup (p.Leu57fs)	SASS6 (L57fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2502836	NM_194292.3(SASS6):c.170del (p.Leu57fs)	SASS6 (L57fs)	Deletion (frameshift variant +1 more)	Microcephaly 14, primary, autosomal recessive	GPathogenic/Likely pathogenic
Select item 1679253	NM_194292.3(SASS6):c.134T>A (p.Val45Asp)	SASS6 (V45D)	Single nucleotide variant (missense variant +1 more)	Microcephaly 14, primary, autosomal recessive	GUncertain significance
Select item 977771	NM_194292.3(SASS6):c.127-13A>G	SASS6	Single nucleotide variant (intron variant)	Microcephaly 14, primary, autosomal recessive	GLikely pathogenic
Select item 1247166	NM_194292.3(SASS6):c.126+212del	SASS6	Deletion (intron variant)	not provided	GBenign
Select item 3316199	NM_194292.3(SASS6):c.115G>A (p.Val39Ile)	SASS6 (V39I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 436635	NM_194292.3(SASS6):c.86G>A (p.Ser29Asn)	SASS6 (S29N)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly 14, primary, autosomal recessive +3 more	GBenign/Likely benign
Select item 1276349	NM_194292.3(SASS6):c.65+7T>C	SASS6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 521499	NM_194292.3(SASS6):c.41T>C (p.Val14Ala)	SASS6 (V14A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299906	NM_194292.3(SASS6):c.20A>G (p.His7Arg)	SASS6 (H7R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance

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