STIP1[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152302	GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1	ATL3, BAD +107 more	Copy number loss	See cases	GLikely pathogenic
Select item 3171218	NM_006819.3(STIP1):c.16G>A (p.Glu6Lys)	STIP1 (E6K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727337	NM_006819.3(STIP1):c.60C>T (p.Ile20=)	STIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784215	NM_006819.3(STIP1):c.81C>T (p.Tyr27=)	STIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3171223	NM_006819.3(STIP1):c.84C>T (p.Ser28=)	STIP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2215526	NM_006819.3(STIP1):c.343A>G (p.Met115Val)	STIP1 (M162V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171219	NM_006819.3(STIP1):c.371T>G (p.Phe124Cys)	STIP1 (F124C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171220	NM_006819.3(STIP1):c.502A>T (p.Thr168Ser)	STIP1 (T168S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488989	NM_006819.3(STIP1):c.610C>T (p.Pro204Ser)	STIP1 (P180S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285967	NM_006819.3(STIP1):c.736A>C (p.Lys246Gln)	STIP1 (K246Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171221	NM_006819.3(STIP1):c.796G>A (p.Ala266Thr)	STIP1 (A266T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251681	NM_006819.3(STIP1):c.826A>G (p.Asn276Asp)	STIP1 (N252D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550247	NM_006819.3(STIP1):c.827A>G (p.Asn276Ser)	STIP1 (N276S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171224	NM_006819.3(STIP1):c.908A>G (p.Tyr303Cys)	STIP1 (Y279C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171225	NM_006819.3(STIP1):c.970A>T (p.Asn324Tyr)	STIP1 (N371Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209010	NM_006819.3(STIP1):c.1052G>A (p.Arg351Gln)	STIP1 (R351Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171213	NM_006819.3(STIP1):c.1081T>A (p.Leu361Met)	STIP1 (L361M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401703	NM_006819.3(STIP1):c.1110T>G (p.Cys370Trp)	STIP1 (C417W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249563	NM_006819.3(STIP1):c.1119A>C (p.Lys373Asn)	STIP1 (K349N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171214	NM_006819.3(STIP1):c.1328A>G (p.Asp443Gly)	STIP1 (D419G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492336	NM_006819.3(STIP1):c.1438G>A (p.Asp480Asn)	STIP1 (D456N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171215	NM_006819.3(STIP1):c.1474G>A (p.Asp492Asn)	STIP1 (D492N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171216	NM_006819.3(STIP1):c.1538A>G (p.Lys513Arg)	STIP1 (K489R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171217	NM_006819.3(STIP1):c.1568A>G (p.Lys523Arg)	STIP1 (K523R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244550	NC_000011.9:g.(?_63731700)_(64572142_?)del	BAD, CATSPERZ +28 more	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
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 2685408	GRCh37/hg19 11q13.1(chr11:63643711-64533636)x1	BAD, CATSPERZ +29 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 634998	dup(11)(q13.1q13.1)	ARL2, ATG2A +74 more	Duplication	Ependymoma	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 34