"PreventionGenetics, part of Exact Sciences"[submitter] AND "SPATA13"[ - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3038489	NM_001166271.3(SPATA13):c.-61C>T	SPATA13	Single nucleotide variant (5 prime UTR variant +2 more)	SPATA13-related disorder	GBenign
Select item 3041432	NM_001166271.3(SPATA13):c.102G>A (p.Ser34=)	SPATA13	Single nucleotide variant (synonymous variant +1 more)	SPATA13-related disorder	GLikely benign
Select item 3039247	NM_001166271.3(SPATA13):c.174C>T (p.Gly58=)	SPATA13	Single nucleotide variant (synonymous variant +1 more)	SPATA13-related disorder	GLikely benign
Select item 3035879	NM_001166271.3(SPATA13):c.266G>C (p.Arg89Pro)	SPATA13 (R151P +1 more)	Single nucleotide variant (missense variant +1 more)	SPATA13-related disorder	GBenign
Select item 3042921	NM_001166271.3(SPATA13):c.497C>T (p.Pro166Leu)	SPATA13 (P166L +1 more)	Single nucleotide variant (missense variant +1 more)	SPATA13-related disorder	GLikely benign
Select item 3048001	NM_001166271.3(SPATA13):c.714C>T (p.Leu238=)	SPATA13	Single nucleotide variant (synonymous variant +1 more)	SPATA13-related disorder	GLikely benign
Select item 3042282	NM_001166271.3(SPATA13):c.840C>T (p.Ala280=)	SPATA13	Single nucleotide variant (synonymous variant +1 more)	SPATA13-related disorder	GLikely benign
Select item 3044180	NM_001166271.3(SPATA13):c.1154C>T (p.Ala385Val)	SPATA13 (A385V +1 more)	Single nucleotide variant (missense variant +1 more)	SPATA13-related disorder	GBenign
Select item 3045952	NM_001166271.3(SPATA13):c.1401C>T (p.Thr467=)	SPATA13	Single nucleotide variant (synonymous variant +1 more)	SPATA13-related disorder	GLikely benign
Select item 3057203	NM_001166271.3(SPATA13):c.1439C>T (p.Pro480Leu)	SPATA13 (P480L +1 more)	Single nucleotide variant (missense variant +1 more)	SPATA13-related disorder	GBenign
Select item 3056629	NM_001166271.3(SPATA13):c.1933C>T (p.Arg645Trp)	SPATA13 (R20W +2 more)	Single nucleotide variant (missense variant)	SPATA13-related disorder	GBenign
Select item 3060272	NM_001166271.3(SPATA13):c.1967T>C (p.Val656Ala)	SPATA13 (V31A +2 more)	Single nucleotide variant (missense variant)	SPATA13-related disorder	GBenign
Select item 3040085	NM_001166271.3(SPATA13):c.1991C>T (p.Thr664Met)	SPATA13 (T39M +2 more)	Single nucleotide variant (missense variant)	SPATA13-related disorder	GLikely benign
Select item 3059614	NM_001166271.3(SPATA13):c.2165-13279G>C	SPATA13	Single nucleotide variant (5 prime UTR variant +1 more)	SPATA13-related disorder	GBenign
Select item 3045931	NM_001166271.3(SPATA13):c.2437C>T (p.Arg813Cys)	SPATA13 (R110C +4 more)	Single nucleotide variant (missense variant)	SPATA13-related disorder	GBenign
Select item 3043191	NM_001166271.3(SPATA13):c.2544C>T (p.Asp848=)	SPATA13	Single nucleotide variant (synonymous variant +1 more)	SPATA13-related disorder	GLikely benign
Select item 3043198	NM_001166271.3(SPATA13):c.2634G>C (p.Arg878=)	SPATA13	Single nucleotide variant (synonymous variant +1 more)	SPATA13-related disorder	GLikely benign
Select item 3042402	NM_001166271.3(SPATA13):c.2667+8G>A	SPATA13	Single nucleotide variant (intron variant)	SPATA13-related disorder	GLikely benign
Select item 3047888	NM_001166271.3(SPATA13):c.2668-7T>C	SPATA13	Single nucleotide variant (intron variant)	SPATA13-related disorder	GLikely benign
Select item 2248719	NM_001166271.3(SPATA13):c.2710G>A (p.Val904Ile)	SPATA13 (V904I +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3045056	NM_001166271.3(SPATA13):c.3087C>T (p.Tyr1029=)	SPATA13	Single nucleotide variant (synonymous variant)	SPATA13-related disorder	GLikely benign
Select item 3051706	NM_001166271.3(SPATA13):c.3216G>A (p.Leu1072=)	SPATA13	Single nucleotide variant (synonymous variant)	SPATA13-related disorder	GLikely benign
Select item 3058486	NM_001166271.3(SPATA13):c.3299C>T (p.Thr1100Met)	SPATA13 (T1100M +5 more)	Single nucleotide variant (missense variant)	SPATA13-related disorder	GLikely benign

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Items: 23