Related gene-specific medical variations for Gene (Select 51091) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3016449	NM_016955.4(SEPSECS):c.114+13C>G	LOC129992330, SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008837	NM_016955.4(SEPSECS):c.114+20C>T	LOC129992330, SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005213	NM_016955.4(SEPSECS):c.114+1G>A	LOC129992330, SEPSECS	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2958573	NM_016955.4(SEPSECS):c.114+9C>T	LOC129992330, SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2892195	NM_016955.4(SEPSECS):c.114+19C>T	LOC129992330, SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841759	NM_016955.4(SEPSECS):c.114+13C>T	LOC129992330, SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2700835	NM_016955.4(SEPSECS):c.114+11G>T	LOC129992330, SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2697668	NM_016955.4(SEPSECS):c.106C>T (p.Leu36=)	LOC129992330, SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2697627	NM_016955.4(SEPSECS):c.75C>G (p.Arg25=)	LOC129992330, SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2445778	NM_016955.4(SEPSECS):c.114+5C>T	LOC129992330, SEPSECS	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2435812	NM_016955.4(SEPSECS):c.1067C>T (p.Ser356Leu)	SEPSECS (S356L +1 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 2421943	NM_016955.4(SEPSECS):c.87G>A (p.Glu29=)	LOC129992330, SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2223555	NM_016955.4(SEPSECS):c.83A>G (p.His28Arg)	LOC129992330, SEPSECS (H28R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1975115	NM_016955.4(SEPSECS):c.78C>T (p.Arg26=)	LOC129992330, SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1902071	NM_016955.4(SEPSECS):c.114+18C>T	LOC129992330, SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674322	NM_016955.4(SEPSECS):c.72C>T (p.Ala24=)	LOC129992330, SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1465402	NM_016955.4(SEPSECS):c.114+1G>T	LOC129992330, SEPSECS	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1338950	NM_016955.4(SEPSECS):c.94A>G (p.Ile32Val)	LOC129992330, SEPSECS (I32V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1309689	NM_016955.4(SEPSECS):c.74G>T (p.Arg25Leu)	LOC129992330, SEPSECS (R25L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1177874	NM_016955.4(SEPSECS):c.114+84C>T	LOC129992330, SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1143262	NM_016955.4(SEPSECS):c.114+8G>C	LOC129992330, SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1141687	NM_016955.4(SEPSECS):c.84T>C (p.His28=)	LOC129992330, SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1140979	NM_016955.4(SEPSECS):c.90C>T (p.His30=)	LOC129992330, SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1106491	NM_016955.4(SEPSECS):c.75C>T (p.Arg25=)	LOC129992330, SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990318	NM_016955.4(SEPSECS):c.499T>C (p.Trp167Arg)	SEPSECS (W167R)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 990317	NM_016955.4(SEPSECS):c.804+4A>T	SEPSECS	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 990315	NM_016955.4(SEPSECS):c.1120G>A (p.Ala374Thr)	SEPSECS (A374T)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 989884	NM_016955.4(SEPSECS):c.1222C>T (p.Leu408Phe)	SEPSECS (L408F)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 989881	NM_016955.4(SEPSECS):c.1351A>G (p.Ile451Val)	SEPSECS (I451V)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 989879	NM_016955.4(SEPSECS):c.1453G>A (p.Ala485Thr)	SEPSECS (A485T)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 989878	NM_016955.4(SEPSECS):c.1461A>C (p.Lys487Asn)	SEPSECS (K487N)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 989877	NM_016955.4(SEPSECS):c.*6G>A	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 984624	NM_016955.4(SEPSECS):c.114+3A>G	LOC129992330, SEPSECS	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 966647	NM_016955.4(SEPSECS):c.107_108insAA (p.Glu37fs)	LOC129992330, SEPSECS (E37fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 917830	NM_016955.4(SEPSECS):c.95T>G (p.Ile32Arg)	SEPSECS, LOC129992330 (I32R)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348558	NM_016955.3(SEPSECS):c.-160C>T	LOC129992331, SEPSECS	Single nucleotide variant (genic upstream transcript variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 348557	NM_016955.3(SEPSECS):c.-147_-146dup	LOC129992331, SEPSECS	Duplication (genic upstream transcript variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 348556	NM_016955.3(SEPSECS):c.-147dup	LOC129992331, SEPSECS	Duplication (genic upstream transcript variant)	not provided +1 more	GBenign/Likely benign
Select item 348555	NM_016955.3(SEPSECS):c.-143_-139TTTTG[4]	LOC129992331, SEPSECS	Microsatellite (genic upstream transcript variant)	Pontoneocerebellar hypoplasia	GUncertain significance

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Links from Gene

Items: 39