SSRP1[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152667	GRCh38/hg38 11q11-12.1(chr11:55316535-57539457)x3	APLNR, LINC02735 +86 more	Copy number gain	See cases	GUncertain significance
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 149390	GRCh38/hg38 11q12.1(chr11:57047366-57372313)x3	LOC130005701, LOC130005702 +15 more	Copy number gain	See cases	GLikely benign
Select item 2300978	NM_003146.3(SSRP1):c.2077C>G (p.Leu693Val)	SSRP1 (L693V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381411	NM_003146.3(SSRP1):c.2074G>C (p.Glu692Gln)	SSRP1 (E692Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780972	NM_003146.3(SSRP1):c.2070A>G (p.Glu690=)	SSRP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3322857	NM_003146.3(SSRP1):c.2008G>A (p.Glu670Lys)	SSRP1 (E670K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525458	NM_003146.3(SSRP1):c.1927C>A (p.Pro643Thr)	SSRP1 (P643T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322856	NM_003146.3(SSRP1):c.1909A>G (p.Met637Val)	SSRP1 (M637V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322854	NM_003146.3(SSRP1):c.1792C>T (p.Arg598Cys)	SSRP1 (R598C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250556	NM_003146.3(SSRP1):c.1726G>A (p.Asp576Asn)	SSRP1 (D576N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543132	NM_003146.3(SSRP1):c.1691A>T (p.Lys564Met)	SSRP1 (K564M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170496	NM_003146.3(SSRP1):c.926C>T (p.Ser309Phe)	SSRP1 (S309F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329002	NM_003146.3(SSRP1):c.607C>T (p.Arg203Trp)	SSRP1 (R203W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406388	NM_003146.3(SSRP1):c.499G>A (p.Val167Ile)	SSRP1 (V167I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770973	NM_003146.3(SSRP1):c.498C>T (p.Tyr166=)	SSRP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2513905	NM_003146.3(SSRP1):c.466G>A (p.Ala156Thr)	SSRP1 (A156T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170495	NM_003146.3(SSRP1):c.281G>A (p.Arg94His)	SSRP1 (R94H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322855	NM_003146.3(SSRP1):c.280C>T (p.Arg94Cys)	SSRP1 (R94C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170494	NM_003146.3(SSRP1):c.268A>G (p.Lys90Glu)	SSRP1 (K90E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785349	NM_003146.3(SSRP1):c.255C>G (p.Leu85=)	SSRP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2525314	NM_003146.3(SSRP1):c.236A>T (p.Glu79Val)	SSRP1 (E79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239487	NM_003146.3(SSRP1):c.197C>T (p.Thr66Ile)	SSRP1 (T66I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170493	NM_003146.3(SSRP1):c.145A>G (p.Thr49Ala)	SSRP1 (T49A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774692	NM_003146.3(SSRP1):c.80G>A (p.Arg27His)	SSRP1 (R27H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 716808	NM_003146.3(SSRP1):c.28G>A (p.Val10Ile)	LOC130005701, SSRP1 (V10I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3338459	GRCh37/hg19 11q12.1(chr11:57003258-57596656)x3	APLNR, BTBD18 +20 more	Copy number gain	Pontocerebellar hypoplasia type 10	GLikely pathogenic
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 1808253	GRCh37/hg19 11q12.1(chr11:56637024-57361915)x3	APLNR, LRRC55 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1341252	GRCh37/hg19 11q12.1(chr11:57037091-57453575)x3	CLP1, MIR130A +14 more	Copy number gain	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 684481	Single allele	APLNR, BTBD18 +67 more	Duplication	not provided	Gnot provided
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 38