SMPDL3B[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 148510	GRCh38/hg38 1p35.3(chr1:27919199-28607226)x3	ATP5IF1, DNAJC8 +51 more	Copy number gain	See cases	GUncertain significance
Select item 3166694	NM_014474.4(SMPDL3B):c.13G>A (p.Ala5Thr)	SMPDL3B (A5T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166698	NM_014474.4(SMPDL3B):c.50G>C (p.Arg17Thr)	SMPDL3B (R17T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510540	NM_014474.4(SMPDL3B):c.52G>T (p.Ala18Ser)	SMPDL3B (A18S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347097	NM_014474.4(SMPDL3B):c.79G>A (p.Ala27Thr)	SMPDL3B (A27T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2348488	NM_014474.4(SMPDL3B):c.100G>A (p.Asp34Asn)	SMPDL3B (D34N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2337961	NM_014474.4(SMPDL3B):c.136C>T (p.Pro46Ser)	SMPDL3B (P46S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278633	NM_014474.4(SMPDL3B):c.211A>G (p.Ile71Val)	SMPDL3B (I71V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166695	NM_014474.4(SMPDL3B):c.298G>A (p.Asp100Asn)	SMPDL3B (D100N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2237164	NM_014474.4(SMPDL3B):c.298G>C (p.Asp100His)	SMPDL3B (D100H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166696	NM_014474.4(SMPDL3B):c.320C>T (p.Ala107Val)	SMPDL3B (A107V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321036	NM_014474.4(SMPDL3B):c.331A>T (p.Ile111Phe)	SMPDL3B (I111F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 57753	GRCh38/hg38 1p35.3(chr1:27952842-28193956)x3	EYA3, LOC129388479 +13 more	Copy number gain	See cases	GUncertain significance
Select item 2381719	NM_014474.4(SMPDL3B):c.385T>C (p.Tyr129His)	SMPDL3B (Y129H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219115	NM_014474.4(SMPDL3B):c.440G>A (p.Ser147Asn)	SMPDL3B (S147N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241944	NM_014474.4(SMPDL3B):c.461T>G (p.Ile154Arg)	SMPDL3B (I154R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523176	NM_014474.4(SMPDL3B):c.478C>A (p.Pro160Thr)	SMPDL3B (P160T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166697	NM_014474.4(SMPDL3B):c.499A>G (p.Ile167Val)	SMPDL3B (I167V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321033	NM_014474.4(SMPDL3B):c.523T>A (p.Phe175Ile)	SMPDL3B (F175I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326982	NM_014474.4(SMPDL3B):c.581C>T (p.Thr194Ile)	SMPDL3B (T194I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 728923	NM_014474.4(SMPDL3B):c.624G>A (p.Ala208=)	SMPDL3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2389335	NM_014474.4(SMPDL3B):c.716C>T (p.Pro239Leu)	SMPDL3B (P33L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166699	NM_014474.4(SMPDL3B):c.767A>G (p.Asn256Ser)	SMPDL3B (N256S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341380	NM_014474.4(SMPDL3B):c.767A>T (p.Asn256Ile)	SMPDL3B (N256I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353920	NM_014474.4(SMPDL3B):c.850C>T (p.Arg284Trp)	SMPDL3B (R284W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166700	NM_014474.4(SMPDL3B):c.935G>C (p.Gly312Ala)	SMPDL3B (G106A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166701	NM_014474.4(SMPDL3B):c.937G>T (p.Val313Leu)	SMPDL3B (V313L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166702	NM_014474.4(SMPDL3B):c.945T>G (p.Asn315Lys)	SMPDL3B (N109K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209818	NM_014474.4(SMPDL3B):c.954C>A (p.Asn318Lys)	SMPDL3B (N318K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208266	NM_014474.4(SMPDL3B):c.967C>T (p.Arg323Trp)	SMPDL3B (R117W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555909	NM_014474.4(SMPDL3B):c.968G>A (p.Arg323Gln)	SMPDL3B (R323Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366072	NM_014474.4(SMPDL3B):c.976G>A (p.Glu326Lys)	SMPDL3B (E326K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3166692	NM_014474.4(SMPDL3B):c.1058C>T (p.Pro353Leu)	SMPDL3B (P353L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638578	NM_014474.4(SMPDL3B):c.1059G>A (p.Pro353=)	SMPDL3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2460543	NM_014474.4(SMPDL3B):c.1061G>A (p.Arg354His)	SMPDL3B (R354H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166693	NM_014474.4(SMPDL3B):c.1064G>T (p.Trp355Leu)	SMPDL3B (W355L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784940	NM_014474.4(SMPDL3B):c.1142G>A (p.Arg381His)	SMPDL3B (R175H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2238401	NM_014474.4(SMPDL3B):c.1147G>A (p.Ala383Thr)	SMPDL3B (A177T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369688	NM_014474.4(SMPDL3B):c.1158G>C (p.Gln386His)	SMPDL3B (Q180H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321034	NM_014474.4(SMPDL3B):c.1247C>T (p.Ala416Val)	SMPDL3B (A416V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321035	NM_014474.4(SMPDL3B):c.1262A>G (p.Asp421Gly)	SMPDL3B (D215G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524983	NM_014474.4(SMPDL3B):c.1357C>T (p.Leu453Phe)	SMPDL3B (L247F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293191	NM_014474.4(SMPDL3B):c.1360G>A (p.Val454Met)	SMPDL3B (V454M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 50