SSBP3[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 153752	GRCh38/hg38 1p32.3(chr1:53823735-54328113)x3	CDCP2, CYB5RL +27 more	Copy number gain	See cases	GUncertain significance
Select item 59969	GRCh38/hg38 1p32.3(chr1:54207426-54756958)x1	ACOT11, FAM151A +25 more	Copy number loss	See cases	GPathogenic
Select item 3170302	NM_145716.4(SSBP3):c.1093G>A (p.Gly365Ser)	SSBP3 (G325S +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530414	NM_145716.4(SSBP3):c.981G>C (p.Glu327Asp)	SSBP3 (E178D +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328225	NM_145716.4(SSBP3):c.938G>C (p.Gly313Ala)	SSBP3 (G164A +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322777	NM_145716.4(SSBP3):c.880A>G (p.Ile294Val)	SSBP3 (I145V +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638828	NM_145716.4(SSBP3):c.852C>T (p.Pro284=)	SSBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2430040	NM_145716.4(SSBP3):c.729dup (p.Gly244fs)	SSBP3 (G107fs +7 more)	Duplication (frameshift variant +1 more)	Developmental disorder	GUncertain significance
Select item 2262980	NM_145716.4(SSBP3):c.722C>T (p.Pro241Leu)	SSBP3 (P104L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170305	NM_145716.4(SSBP3):c.667A>G (p.Met223Val)	SSBP3 (M176V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211621	NM_145716.4(SSBP3):c.664G>A (p.Gly222Ser)	SSBP3 (G203S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3449682	NM_145716.4(SSBP3):c.634A>G (p.Met212Val)	SSBP3 (M172V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276395	NM_145716.4(SSBP3):c.524C>T (p.Pro175Leu)	SSBP3 (P155L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170304	NM_145716.4(SSBP3):c.488C>T (p.Pro163Leu)	SSBP3 (P136L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294431	NM_145716.4(SSBP3):c.485C>T (p.Pro162Leu)	SSBP3 (P135L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341228	NM_145716.4(SSBP3):c.469G>A (p.Ala157Thr)	SSBP3 (A117T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480969	NM_145716.4(SSBP3):c.407C>T (p.Pro136Leu)	SSBP3 (P136L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3449681	NM_145716.4(SSBP3):c.373C>G (p.Pro125Ala)	SSBP3 (P15A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355949	NM_145716.4(SSBP3):c.323A>G (p.Asn108Ser)	SSBP3 (N95S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3449683	NM_145716.4(SSBP3):c.268C>T (p.His90Tyr)	SSBP3 (H90Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1321958	NM_145716.4(SSBP3):c.177del (p.Leu59fs)	SSBP3 (L46fs +1 more)	Deletion (frameshift variant +2 more)	Neurodevelopmental disorder	GUncertain significance
Select item 3170303	NM_145716.4(SSBP3):c.109G>A (p.Ala37Thr)	SSBP3 (A37T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3449684	NM_145716.4(SSBP3):c.95G>A (p.Gly32Glu)	SSBP3 (G32E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2341360	NM_145716.4(SSBP3):c.8C>T (p.Ala3Val)	SSBP3 (A3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3391840	GRCh37/hg19 1p34.1-22.2(chr1:44475302-89585894)x3	ACADM, ACOT11 +251 more	Copy number gain	not provided	GPathogenic
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 1047872	GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	CYB5RL, EPS15 +49 more	Copy number loss	Abnormality of the kidney +1 more	GPathogenic
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	ATG4C, MRPL37 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
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 565098	GRCh37/hg19 1p32.3(chr1:54575439-55381546)x1	MRPL37, TTC22 +10 more	Copy number loss	not provided	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
Select item 394094	GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1	LRP8, LRRC42 +42 more	Copy number loss	See cases	GPathogenic

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Items: 38