TIPIN[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 2364009	NM_017858.3(TIPIN):c.890T>C (p.Ile297Thr)	TIPIN (I196T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367049	NM_017858.3(TIPIN):c.848T>C (p.Phe283Ser)	TIPIN (F182S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532758	NM_017858.3(TIPIN):c.815T>C (p.Leu272Ser)	TIPIN (L171S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622672	NM_017858.3(TIPIN):c.809A>G (p.Asn270Ser)	TIPIN (N270S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529105	NM_017858.3(TIPIN):c.697A>C (p.Thr233Pro)	TIPIN (T233P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177612	NM_017858.3(TIPIN):c.566C>T (p.Ser189Phe)	TIPIN (S189F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287040	NM_017858.3(TIPIN):c.544T>C (p.Ser182Pro)	TIPIN (S81P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479115	NM_017858.3(TIPIN):c.277A>G (p.Lys93Glu)	TIPIN (K93E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177611	NM_017858.3(TIPIN):c.245G>A (p.Arg82Lys)	TIPIN (R82K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177610	NM_017858.3(TIPIN):c.213A>T (p.Arg71Ser)	TIPIN (R71S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621250	NM_017858.3(TIPIN):c.124C>T (p.Pro42Ser)	TIPIN (P42S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3326205	NM_017858.3(TIPIN):c.103C>A (p.Gln35Lys)	TIPIN (Q35K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 561817	NM_002755.3(MAP2K1):c.-767A>C	LOC130057338, MAP2K1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561873	NM_002755.3(MAP2K1):c.-695A>T	TIPIN, LOC130057338 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 561875	NM_002755.3(MAP2K1):c.-631C>T	MAP2K1, TIPIN	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2684761	GRCh37/hg19 15q22.31(chr15:66349832-66790693)x3	DIS3L, MAP2K1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1512687	NC_000015.9:g.(?_66161924)_(69018313_?)dup	AAGAB, C15orf61 +21 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253805	GRCh37/hg19 15q22.31(chr15:66643638-66745287)x1	TIPIN, MAP2K1	Copy number loss	See cases	GUncertain significance
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 27