Related gene-specific medical variations for Gene (Select 23514) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3169107	NM_001080394.4(SPIDR):c.1315A>G (p.Thr439Ala)	LOC130000329, SPIDR (T189A +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169106	NM_001080394.4(SPIDR):c.1312G>C (p.Ala438Pro)	LOC130000329, SPIDR (A196P +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351479	NM_001080394.4(SPIDR):c.7C>A (p.Arg3Ser)	LOC130000324, SPIDR (R3S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2298265	NM_001080394.4(SPIDR):c.14G>A (p.Ser5Asn)	LOC130000324, SPIDR (S5N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2275336	NM_001080394.4(SPIDR):c.1361G>A (p.Arg454His)	LOC130000329, SPIDR (R204H +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1255999	NM_001080394.4(SPIDR):c.2265del (p.Cys756fs)	SPIDR (C261fs +12 more)	Deletion (frameshift variant +1 more)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 1255998	NM_001080394.4(SPIDR):c.776+1G>T	SPIDR	Single nucleotide variant (splice donor variant +1 more)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 979229	GRCh37/hg19 8q11.1-11.21(chr8:48089553-48222687)x1	SPIDR	Copy number loss	not provided	GUncertain significance
Select item 815125	GRCh37/hg19 8q11.1-11.21(chr8:48058961-48260865)x1	SPIDR	Copy number loss	not provided	GUncertain significance
Select item 688977	GRCh37/hg19 8q11.21(chr8:48293202-48551216)x1	SPIDR	Copy number loss	not provided	GUncertain significance
Select item 688221	GRCh37/hg19 8q11.21(chr8:48128306-48205935)x1	SPIDR	Copy number loss	not provided	GUncertain significance
Select item 563434	GRCh37/hg19 8q11.21(chr8:48128092-48218014)x1	SPIDR	Copy number loss	not provided	GUncertain significance