MAS1[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	IGF2R, KIF25 +540 more	Copy number loss	See cases	GPathogenic
Select item 148765	GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	SOD2, SOD2-OT1 +270 more	Copy number loss	See cases	GPathogenic
Select item 155551	GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3	ACAT2, AIRN +115 more	Copy number gain	See cases	GUncertain significance
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	LOC126859858, LOC126859859 +340 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 3293364	NM_002377.4(MAS1):c.43A>T (p.Thr15Ser)	MAS1 (T15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246758	NM_002377.4(MAS1):c.120G>T (p.Met40Ile)	MAS1 (M40I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123708	NM_002377.4(MAS1):c.199A>G (p.Thr67Ala)	MAS1 (T67A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619188	NM_002377.4(MAS1):c.200C>G (p.Thr67Ser)	MAS1 (T67S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284943	NM_002377.4(MAS1):c.211A>G (p.Thr71Ala)	MAS1 (T71A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203799	NM_002377.4(MAS1):c.226G>A (p.Ala76Thr)	MAS1 (A76T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541013	NM_002377.4(MAS1):c.296C>A (p.Ser99Tyr)	MAS1 (S99Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123709	NM_002377.4(MAS1):c.371C>T (p.Thr124Met)	MAS1 (T124M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286999	NM_002377.4(MAS1):c.387G>C (p.Glu129Asp)	MAS1 (E129D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293360	NM_002377.4(MAS1):c.422G>A (p.Arg141Gln)	MAS1 (R141Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123710	NM_002377.4(MAS1):c.509T>C (p.Met170Thr)	MAS1 (M170T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293365	NM_002377.4(MAS1):c.517G>A (p.Asp173Asn)	MAS1 (D173N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260243	NM_002377.4(MAS1):c.532A>G (p.Ser178Gly)	MAS1 (S178G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123711	NM_002377.4(MAS1):c.538T>C (p.Ser180Pro)	MAS1 (S180P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560456	NM_002377.4(MAS1):c.541C>T (p.Arg181Trp)	MAS1 (R181W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293359	NM_002377.4(MAS1):c.542G>A (p.Arg181Gln)	MAS1 (R181Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589490	NM_002377.4(MAS1):c.554G>A (p.Arg185Gln)	MAS1 (R185Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380733	NM_002377.4(MAS1):c.634G>A (p.Val212Met)	MAS1 (V212M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123712	NM_002377.4(MAS1):c.644G>A (p.Arg215Gln)	MAS1 (R215Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215264	NM_002377.4(MAS1):c.656G>C (p.Trp219Ser)	MAS1 (W219S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317838	NM_002377.4(MAS1):c.721G>A (p.Ala241Thr)	MAS1 (A241T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333013	NM_002377.4(MAS1):c.734G>A (p.Arg245Lys)	MAS1 (R245K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719390	NM_002377.4(MAS1):c.755A>G (p.Tyr252Cys)	MAS1 (Y252C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3123714	NM_002377.4(MAS1):c.788A>G (p.His263Arg)	MAS1 (H263R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123715	NM_002377.4(MAS1):c.818G>A (p.Ser273Asn)	MAS1 (S273N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353169	NM_002377.4(MAS1):c.845T>C (p.Phe282Ser)	MAS1 (F282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293361	NM_002377.4(MAS1):c.848T>A (p.Val283Glu)	MAS1 (V283E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536330	NM_002377.4(MAS1):c.869G>A (p.Arg290Lys)	MAS1 (R290K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293362	NM_002377.4(MAS1):c.913G>A (p.Asp305Asn)	MAS1 (D305N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123716	NM_002377.4(MAS1):c.920T>C (p.Met307Thr)	MAS1 (M307T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620504	NM_002377.4(MAS1):c.920T>G (p.Met307Arg)	MAS1 (M307R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248171	NM_002377.4(MAS1):c.931C>T (p.Arg311Cys)	MAS1 (R311C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376682	NM_002377.4(MAS1):c.962T>A (p.Val321Asp)	MAS1 (V321D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394725	NM_002377.4(MAS1):c.973G>A (p.Val325Ile)	MAS1 (V325I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	LOC129997629, LOC129997630 +323 more	Copy number loss	See cases	GPathogenic
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	ACAT2, AFDN +54 more	Copy number gain	not provided	GUncertain significance
Select item 2427078	NC_000006.11:g.(?_158532398)_(162868359_?)del	LPA, MAP3K4 +26 more	Deletion	not provided	GPathogenic
Select item 1708184	GRCh37/hg19 6q25.3-27(chr6:157318401-165233548)x1	MAS1, MRPL18 +33 more	Copy number loss	See cases	GPathogenic
Select item 1703663	GRCh37/hg19 6q25.3-27(chr6:159121459-170919482)	ACAT2, AFDN +55 more	Copy number loss	Hydrocephalus	GPathogenic
Select item 1527308	GRCh37/hg19 6q25.2-26(chr6:153207930-164322346)	ACAT2, AGPAT4 +44 more	Copy number loss	not specified	GPathogenic
Select item 979580	GRCh37/hg19 6q25.3(chr6:159998877-160413982)x3	PNLDC1, ACAT2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 687358	GRCh37/hg19 6q25.3(chr6:157262571-160992289)x3	ACAT2, AIRN +27 more	Copy number gain	not provided	GUncertain significance
Select item 563245	GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3	ACAT2, AFDN +49 more	Copy number gain	not provided	GPathogenic
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic

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Items: 58