ITPRIPL2[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 153402	GRCh38/hg38 16p12.3(chr16:18759489-19293402)x3	ARL6IP1, CLEC19A +24 more	Copy number gain	See cases	GUncertain significance
Select item 3111957	NM_001034841.4(ITPRIPL2):c.110G>C (p.Arg37Pro)	ITPRIPL2 (R37P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287054	NM_001034841.4(ITPRIPL2):c.121G>T (p.Ala41Ser)	ITPRIPL2 (A41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287055	NM_001034841.4(ITPRIPL2):c.139G>A (p.Gly47Ser)	ITPRIPL2 (G47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111961	NM_001034841.4(ITPRIPL2):c.146C>T (p.Pro49Leu)	ITPRIPL2 (P49L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111962	NM_001034841.4(ITPRIPL2):c.230G>T (p.Gly77Val)	ITPRIPL2 (G77V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111963	NM_001034841.4(ITPRIPL2):c.253G>C (p.Ala85Pro)	ITPRIPL2 (A85P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287052	NM_001034841.4(ITPRIPL2):c.287G>A (p.Gly96Asp)	ITPRIPL2 (G96D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301373	NM_001034841.4(ITPRIPL2):c.506G>C (p.Arg169Pro)	ITPRIPL2 (R169P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609176	NM_001034841.4(ITPRIPL2):c.638C>G (p.Ala213Gly)	ITPRIPL2 (A213G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277813	NM_001034841.4(ITPRIPL2):c.668G>A (p.Gly223Asp)	ITPRIPL2 (G223D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260357	NM_001034841.4(ITPRIPL2):c.710G>T (p.Cys237Phe)	ITPRIPL2 (C237F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111964	NM_001034841.4(ITPRIPL2):c.734A>T (p.His245Leu)	ITPRIPL2 (H245L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287053	NM_001034841.4(ITPRIPL2):c.746C>T (p.Thr249Ile)	ITPRIPL2 (T249I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247578	NM_001034841.4(ITPRIPL2):c.757C>A (p.Arg253Ser)	ITPRIPL2 (R253S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292486	NM_001034841.4(ITPRIPL2):c.767A>G (p.Gln256Arg)	ITPRIPL2 (Q256R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531725	NM_001034841.4(ITPRIPL2):c.768G>T (p.Gln256His)	ITPRIPL2 (Q256H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287057	NM_001034841.4(ITPRIPL2):c.800G>T (p.Arg267Leu)	ITPRIPL2 (R267L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373827	NM_001034841.4(ITPRIPL2):c.856C>T (p.Pro286Ser)	ITPRIPL2 (P286S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111965	NM_001034841.4(ITPRIPL2):c.967G>T (p.Ala323Ser)	ITPRIPL2 (A323S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369321	NM_001034841.4(ITPRIPL2):c.977C>T (p.Pro326Leu)	ITPRIPL2 (P326L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240586	NM_001034841.4(ITPRIPL2):c.977C>G (p.Pro326Arg)	ITPRIPL2 (P326R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398524	NM_001034841.4(ITPRIPL2):c.991A>T (p.Ser331Cys)	ITPRIPL2 (S331C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287056	NM_001034841.4(ITPRIPL2):c.1028C>G (p.Ala343Gly)	ITPRIPL2 (A343G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646274	NM_001034841.4(ITPRIPL2):c.1032G>A (p.Glu344=)	ITPRIPL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3287051	NM_001034841.4(ITPRIPL2):c.1057C>T (p.Arg353Cys)	ITPRIPL2 (R353C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111958	NM_001034841.4(ITPRIPL2):c.1147C>T (p.Arg383Cys)	ITPRIPL2 (R383C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111959	NM_001034841.4(ITPRIPL2):c.1163G>A (p.Arg388His)	ITPRIPL2 (R388H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400485	NM_001034841.4(ITPRIPL2):c.1187C>T (p.Thr396Ile)	ITPRIPL2 (T396I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611753	NM_001034841.4(ITPRIPL2):c.1258G>T (p.Ala420Ser)	ITPRIPL2 (A420S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386717	NM_001034841.4(ITPRIPL2):c.1265G>T (p.Gly422Val)	ITPRIPL2 (G422V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510870	NM_001034841.4(ITPRIPL2):c.1312G>A (p.Val438Met)	ITPRIPL2 (V438M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326419	NM_001034841.4(ITPRIPL2):c.1318T>G (p.Phe440Val)	ITPRIPL2 (F440V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111960	NM_001034841.4(ITPRIPL2):c.1363G>A (p.Val455Ile)	ITPRIPL2 (V455I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470583	NM_001034841.4(ITPRIPL2):c.1364T>A (p.Val455Asp)	ITPRIPL2 (V455D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536747	NM_001034841.4(ITPRIPL2):c.1586G>C (p.Gly529Ala)	ITPRIPL2 (G529A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684798	GRCh37/hg19 16p12.3(chr16:19046826-19831178)x3	CCP110, CLEC19A +9 more	Copy number gain	not provided	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221512	GRCh37/hg19 16p12.3(chr16:19083339-19586433)x4	CCP110, CLEC19A +6 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 53