MPP4[gene] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 146362	GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1	ALS2, AOX1 +145 more	Copy number loss	See cases	GLikely pathogenic
Select item 147402	GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1	ALS2, AOX1 +117 more	Copy number loss	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 58817	GRCh38/hg38 2q33.1(chr2:201537291-201896769)x1	ALS2, C2CD6 +11 more	Copy number loss	See cases	GPathogenic
Select item 584058	NC_000002.12:g.(?_201618900)_(201647825_?)del	C2CD6, LOC129935416 +3 more	Deletion	Joubert syndrome 14	GPathogenic
Select item 3295729	NM_033066.3(MPP4):c.1847A>G (p.Gln616Arg)	MPP4 (Q616R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552899	NM_033066.3(MPP4):c.1822T>G (p.Cys608Gly)	MPP4 (C608G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236740	NM_033066.3(MPP4):c.1766C>G (p.Thr589Ser)	MPP4 (T589S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202886	NM_033066.3(MPP4):c.1684G>C (p.Val562Leu)	MPP4 (V562L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202882	NM_033066.3(MPP4):c.1672A>G (p.Lys558Glu)	MPP4 (K558E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202880	NM_033066.3(MPP4):c.1670G>A (p.Arg557Gln)	MPP4 (R557Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288488	NM_033066.3(MPP4):c.1652G>A (p.Arg551Lys)	MPP4 (R551K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202872	NM_033066.3(MPP4):c.1629A>G (p.Ile543Met)	MPP4 (I543M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202871	NM_033066.3(MPP4):c.1617G>C (p.Lys539Asn)	MPP4 (K539N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237641	NM_033066.3(MPP4):c.1601G>A (p.Arg534Gln)	MPP4 (R534Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202862	NM_033066.3(MPP4):c.1568T>C (p.Met523Thr)	MPP4 (M523T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202857	NM_033066.3(MPP4):c.1486T>C (p.Tyr496His)	MPP4 (Y496H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384858	NM_033066.3(MPP4):c.1465T>C (p.Tyr489His)	MPP4 (Y489H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461122	NM_033066.3(MPP4):c.1379C>T (p.Pro460Leu)	MPP4 (P460L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554838	NM_033066.3(MPP4):c.1371T>G (p.Ser457Arg)	MPP4 (S457R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211830	NM_033066.3(MPP4):c.1318G>C (p.Val440Leu)	MPP4 (V440L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202842	NM_033066.3(MPP4):c.1265G>A (p.Arg422His)	MPP4 (R422H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239587	NM_033066.3(MPP4):c.1265G>T (p.Arg422Leu)	MPP4 (R422L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202838	NM_033066.3(MPP4):c.1264C>T (p.Arg422Cys)	MPP4 (R422C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295730	NM_033066.3(MPP4):c.1232C>A (p.Ala411Asp)	MPP4 (A411D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202832	NM_033066.3(MPP4):c.1226T>C (p.Val409Ala)	MPP4 (V409A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256380	NM_033066.3(MPP4):c.1184T>A (p.Leu395Gln)	MPP4 (L395Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611172	NM_033066.3(MPP4):c.1142G>A (p.Arg381His)	MPP4 (R381H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295731	NM_033066.3(MPP4):c.1141C>T (p.Arg381Cys)	MPP4 (R381C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202822	NM_033066.3(MPP4):c.1138C>T (p.Arg380Cys)	MPP4 (R380C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389212	NM_033066.3(MPP4):c.1078C>G (p.Leu360Val)	MPP4 (L360V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230055	NM_033066.3(MPP4):c.1054G>A (p.Glu352Lys)	MPP4 (E352K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202811	NM_033066.3(MPP4):c.1004T>C (p.Met335Thr)	MPP4 (M335T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 144725	GRCh38/hg38 2q33.1(chr2:201674160-202308811)x3	ALS2, CDK15 +25 more	Copy number gain	See cases	GUncertain significance
Select item 3202941	NM_033066.3(MPP4):c.974C>T (p.Thr325Ile)	MPP4 (T325I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 375383	NM_033066.3(MPP4):c.946T>C (p.Trp316Arg)	MPP4 (W316R)	Single nucleotide variant (missense variant)	Generalized hypotonia +6 more	GPathogenic
Select item 2510552	NM_033066.3(MPP4):c.908C>G (p.Pro303Arg)	MPP4 (P303R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202935	NM_033066.3(MPP4):c.895G>T (p.Ala299Ser)	MPP4 (A299S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480101	NM_033066.3(MPP4):c.820G>A (p.Asp274Asn)	MPP4 (D274N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261679	NM_033066.3(MPP4):c.796G>A (p.Ala266Thr)	MPP4 (A266T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364683	NM_033066.3(MPP4):c.790A>G (p.Met264Val)	MPP4 (M264V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202925	NM_033066.3(MPP4):c.785C>G (p.Pro262Arg)	MPP4 (P262R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729070	NM_033066.3(MPP4):c.762del (p.Trp254fs)	MPP4 (W254fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 3202923	NM_033066.3(MPP4):c.704C>G (p.Ser235Cys)	MPP4 (S235C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398071	NM_033066.3(MPP4):c.671G>A (p.Arg224Gln)	MPP4 (R224Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467369	NM_033066.3(MPP4):c.665T>C (p.Met222Thr)	MPP4 (M222T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299878	NM_033066.3(MPP4):c.622G>T (p.Val208Phe)	MPP4 (V208F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202914	NM_033066.3(MPP4):c.594C>A (p.Asp198Glu)	MPP4 (D198E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202911	NM_033066.3(MPP4):c.509G>A (p.Arg170His)	MPP4 (R170H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508444	NM_033066.3(MPP4):c.508C>T (p.Arg170Cys)	MPP4 (R170C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358950	NM_033066.3(MPP4):c.435C>G (p.Ile145Met)	MPP4 (I145M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295728	NM_033066.3(MPP4):c.296G>A (p.Arg99His)	MPP4 (R99H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202900	NM_033066.3(MPP4):c.286G>A (p.Glu96Lys)	MPP4 (E96K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202897	NM_033066.3(MPP4):c.188A>C (p.Gln63Pro)	MPP4 (Q63P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464769	NM_033066.3(MPP4):c.176C>T (p.Ser59Leu)	MPP4 (S59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2423982	NC_000002.11:g.(?_201943606)_(204824322_?)dup	ABI2, ALS2 +25 more	Duplication	Autoimmune lymphoproliferative syndrome type 2B +1 more	GUncertain significance
Select item 2423585	NC_000002.11:g.(?_202501451)_(202633608_?)del	ALS2, MPP4 +1 more	Deletion	Infantile-onset ascending hereditary spastic paralysis +1 more	GPathogenic
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1704349	GRCh37/hg19 2q33.1(chr2:201838259-202711243)x3	ALS2, C2CD6 +11 more	Copy number gain	CYSTIC HYGROMA, VSD	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526943	GRCh37/hg19 2q33.1-34(chr2:200851079-209054267)	ABI2, ADAM23 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1456057	NC_000002.11:g.(?_201943606)_(204824322_?)del	ABI2, ALS2 +25 more	Deletion	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency +2 more	GPathogenic
Select item 1056052	NC_000002.11:g.(?_202334676)_(202523241_?)dup	C2CD6, MPP4 +2 more	Duplication	Joubert syndrome 14	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979397	GRCh37/hg19 2q33.1(chr2:202011822-202749788)x1	ALS2, C2CD6 +9 more	Copy number loss	not provided	GUncertain significance
Select item 979396	GRCh37/hg19 2q33.1(chr2:202460698-202566764)x3	TMEM237, C2CD6 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814356	GRCh37/hg19 2q33.1(chr2:202333474-202537984)x3	STRADB, MPP4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 813263	Single allele	ABI2, ALS2 +35 more	Deletion	Pulmonary arterial hypertension	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562480	GRCh37/hg19 2q33.1(chr2:202489706-202530742)x1	TMEM237, MPP4	Copy number loss	not provided	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 253679	GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3	ALS2, AOX1 +25 more	Copy number gain	See cases	GUncertain significance

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Items: 88