7596[HGNC] - 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 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 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 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 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 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	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 2528114	NM_001130158.3(MYO1B):c.170C>T (p.Pro57Leu)	MYO1B (P57L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783992	NM_001130158.3(MYO1B):c.238C>T (p.Leu80=)	MYO1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2598194	NM_001130158.3(MYO1B):c.256G>T (p.Ala86Ser)	MYO1B (A86S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458930	NM_001130158.3(MYO1B):c.382G>A (p.Val128Ile)	MYO1B (V128I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163177	NM_001130158.3(MYO1B):c.431A>G (p.Gln144Arg)	MYO1B (Q144R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272903	NM_001130158.3(MYO1B):c.440C>T (p.Pro147Leu)	MYO1B (P147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240110	NM_001130158.3(MYO1B):c.521T>G (p.Phe174Cys)	MYO1B (F174C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225052	NM_001130158.3(MYO1B):c.680G>C (p.Arg227Thr)	MYO1B (R227T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283856	NM_001130158.3(MYO1B):c.770C>T (p.Ala257Val)	MYO1B (A257V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297779	NM_001130158.3(MYO1B):c.858C>G (p.Phe286Leu)	MYO1B (F286L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297781	NM_001130158.3(MYO1B):c.932A>G (p.Glu311Gly)	MYO1B (E311G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411716	NM_001130158.3(MYO1B):c.937A>G (p.Thr313Ala)	MYO1B (T313A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297775	NM_001130158.3(MYO1B):c.940G>A (p.Gly314Ser)	MYO1B (G314S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521071	NM_001130158.3(MYO1B):c.1012A>G (p.Thr338Ala)	MYO1B (T338A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479318	NM_001130158.3(MYO1B):c.1100G>A (p.Arg367Gln)	MYO1B (R367Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285984	NM_001130158.3(MYO1B):c.1275G>C (p.Glu425Asp)	MYO1B (E425D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163066	NM_001130158.3(MYO1B):c.1412C>T (p.Thr471Ile)	MYO1B (T471I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354998	NM_001130158.3(MYO1B):c.1456C>T (p.His486Tyr)	MYO1B (H486Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297777	NM_001130158.3(MYO1B):c.1469A>G (p.Glu490Gly)	MYO1B (E490G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361136	NM_001130158.3(MYO1B):c.1579G>A (p.Val527Ile)	MYO1B (V527I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394977	NM_001130158.3(MYO1B):c.1640A>G (p.His547Arg)	MYO1B (H547R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775797	NM_001130158.3(MYO1B):c.1794G>A (p.Pro598=)	MYO1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2477199	NM_001130158.3(MYO1B):c.1912T>G (p.Tyr638Asp)	MYO1B (Y638D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163085	NM_001130158.3(MYO1B):c.1934A>G (p.Tyr645Cys)	MYO1B (Y645C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335012	NM_001130158.3(MYO1B):c.1969A>C (p.Lys657Gln)	MYO1B (K657Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275905	NM_001130158.3(MYO1B):c.2036C>T (p.Ser679Phe)	MYO1B (S679F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340985	NM_001130158.3(MYO1B):c.2047T>A (p.Ser683Thr)	MYO1B (S683T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264076	NM_001130158.3(MYO1B):c.2063G>A (p.Arg688Gln)	MYO1B (R688Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520516	NM_001130158.3(MYO1B):c.2087T>C (p.Leu696Ser)	MYO1B (L696S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297776	NM_001130158.3(MYO1B):c.2144A>T (p.Tyr715Phe)	MYO1B (Y715F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315835	NM_001130158.3(MYO1B):c.2177T>C (p.Leu726Pro)	MYO1B (L726P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262179	NM_001130158.3(MYO1B):c.2203G>A (p.Ala735Thr)	MYO1B (A735T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327688	NM_001130158.3(MYO1B):c.2210G>C (p.Trp737Ser)	MYO1B (W737S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552372	NM_001130158.3(MYO1B):c.2215A>G (p.Arg739Gly)	MYO1B (R739G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775798	NM_001130158.3(MYO1B):c.2232A>G (p.Gln744=)	MYO1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3163109	NM_001130158.3(MYO1B):c.2237G>A (p.Arg746Lys)	MYO1B (R746K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222053	NM_001130158.3(MYO1B):c.2251A>C (p.Lys751Gln)	MYO1B (K751Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163113	NM_001130158.3(MYO1B):c.2311C>T (p.Arg771Trp)	MYO1B (R771W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309553	NM_001130158.3(MYO1B):c.2378C>T (p.Thr793Ile)	MYO1B (T793I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791882	NM_001130158.3(MYO1B):c.2474G>A (p.Arg825Gln)	MYO1B (R796Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2344972	NM_001130158.3(MYO1B):c.2512A>G (p.Lys838Glu)	MYO1B (K809E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251544	NM_001130158.3(MYO1B):c.2516A>T (p.His839Leu)	MYO1B (H839L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490487	NM_001130158.3(MYO1B):c.2554A>C (p.Lys852Gln)	MYO1B (K823Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398104	NM_001130158.3(MYO1B):c.2591A>G (p.Asn864Ser)	MYO1B (N835S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543849	NM_001130158.3(MYO1B):c.2665A>T (p.Met889Leu)	MYO1B (M889L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260249	NM_001130158.3(MYO1B):c.2702C>T (p.Ser901Leu)	MYO1B (S843L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297778	NM_001130158.3(MYO1B):c.2733C>A (p.His911Gln)	MYO1B (H911Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 998148	NM_001130158.3(MYO1B):c.2775del (p.Lys925fs)	MYO1B (K867fs +2 more)	Deletion (frameshift variant)	Colorectal cancer	GPathogenic
Select item 3297782	NM_001130158.3(MYO1B):c.2790C>G (p.Phe930Leu)	MYO1B (F930L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343122	NM_001130158.3(MYO1B):c.2807T>G (p.Leu936Arg)	MYO1B (L878R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475462	NM_001130158.3(MYO1B):c.2879G>A (p.Gly960Glu)	MYO1B (G902E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470469	NM_001130158.3(MYO1B):c.2882A>T (p.Gln961Leu)	MYO1B (Q903L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163153	NM_001130158.3(MYO1B):c.3073A>G (p.Ile1025Val)	MYO1B (I1025V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470723	NM_001130158.3(MYO1B):c.3103A>G (p.Thr1035Ala)	MYO1B (T1006A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595023	NM_001130158.3(MYO1B):c.3145G>A (p.Val1049Ile)	MYO1B (V991I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2620158	NM_001130158.3(MYO1B):c.3333T>G (p.Ile1111Met)	MYO1B (I1111M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163165	NM_001130158.3(MYO1B):c.3352G>A (p.Gly1118Arg)	MYO1B (G1089R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605018	NM_001130158.3(MYO1B):c.3383A>G (p.Asn1128Ser)	MYO1B (N1070S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465648	NM_001130158.3(MYO1B):c.3403G>A (p.Val1135Ile)	MYO1B (V1106I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685870	GRCh37/hg19 2q32.3(chr2:191963204-192222389)x3	MYO1B, STAT4	Copy number gain	not provided	GUncertain significance
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 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1807826	GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	ANKAR, ANKRD44 +48 more	Copy number loss	not provided	GPathogenic
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 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
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 979391	GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3	ANKAR, ASNSD1 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 977790	GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289)	OSGEPL1, STAT4 +38 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562676	GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1	ANKRD44, AOX1 +45 more	Copy number loss	not provided	GPathogenic
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 252975	GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1	AGPS, ANKAR +62 more	Copy number loss	See cases	GPathogenic

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Items: 88