ClinVar for MedGen (Select 906798) - ClinVar - NCBI

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Items: 13

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25061191.	NM_194292.3(SASS6):c.497C>A (p.Ser166Ter) GRCh37: Chr1:100586002 GRCh38: Chr1:100120446	SASS6	S166*	Microcephaly 14, primary, autosomal recessive	Likely pathogenic (May 9, 2023)	criteria provided, single submitter
Select item 25028362.	NM_194292.3(SASS6):c.170del (p.Leu57fs) GRCh37: Chr1:100588802 GRCh38: Chr1:100123246	SASS6	L57fs	Microcephaly 14, primary, autosomal recessive	Likely pathogenic	criteria provided, single submitter
Select item 18021933.	NM_194292.3(SASS6):c.1057-6_1057-2del GRCh37: Chr1:100573275-100573279 GRCh38: Chr1:100107719-100107723	SASS6		Inborn genetic diseases, Microcephaly 14, primary, autosomal recessive	Conflicting interpretations of pathogenicity (Jun 21, 2022)	criteria provided, conflicting interpretations
Select item 16792534.	NM_194292.3(SASS6):c.134T>A (p.Val45Asp) GRCh37: Chr1:100588838 GRCh38: Chr1:100123282	SASS6	V45D	Microcephaly 14, primary, autosomal recessive	Uncertain significance (Aug 1, 2021)	criteria provided, single submitter
Select item 12634775.	NM_194292.3(SASS6):c.776C>T (p.Ala259Val) GRCh37: Chr1:100575933 GRCh38: Chr1:100110377	SASS6	A259V, A92V	Microcephaly 14, primary, autosomal recessive, not provided	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9777726.	NM_194292.3(SASS6):c.1867+2T>A GRCh37: Chr1:100551090 GRCh38: Chr1:100085534	SASS6		Microcephaly 14, primary, autosomal recessive	Pathogenic (Sep 10, 2020)	no assertion criteria provided
Select item 9777717.	NM_194292.3(SASS6):c.127-13A>G GRCh37: Chr1:100588858 GRCh38: Chr1:100123302	SASS6		Microcephaly 14, primary, autosomal recessive	Pathogenic (Sep 10, 2020)	no assertion criteria provided
Select item 7817768.	NM_194292.3(SASS6):c.735A>G (p.Gln245=) GRCh37: Chr1:100575974 GRCh38: Chr1:100110418	SASS6		not specified, Microcephaly 14, primary, autosomal recessive, not provided	Benign (Jun 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 7381289.	NM_194292.3(SASS6):c.312-4A>C GRCh37: Chr1:100587109 GRCh38: Chr1:100121553	SASS6		not specified, not provided, Microcephaly 14, primary, autosomal recessive	Benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 73440610.	NM_194292.3(SASS6):c.1835G>A (p.Arg612His) GRCh37: Chr1:100551124 GRCh38: Chr1:100085568	SASS6	R445H, R612H	not specified, Microcephaly 14, primary, autosomal recessive, not provided	Benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 72007111.	NM_194292.3(SASS6):c.873G>C (p.Arg291=) GRCh37: Chr1:100573549 GRCh38: Chr1:100107993	SASS6		not provided, not specified, Microcephaly 14, primary, autosomal recessive	Likely benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 43663512.	NM_194292.3(SASS6):c.86G>A (p.Ser29Asn) GRCh37: Chr1:100591478 GRCh38: Chr1:100125922	SASS6	S29N	Microcephaly 14, primary, autosomal recessive, not specified, not provided	Benign/Likely benign (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 19223113.	NM_194292.3(SASS6):c.185T>C (p.Ile62Thr) GRCh37: Chr1:100588787 GRCh38: Chr1:100123231	SASS6	I62T	Microcephaly 14, primary, autosomal recessive	Pathogenic (Nov 15, 2014)	no assertion criteria provided