10585[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 59135	GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1	LOC130002822, LOC130002823 +160 more	Copy number loss	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 59909	GRCh38/hg38 9q34.13(chr9:131261516-131741175)x3	RAPGEF1, SNORD62A +57 more	Copy number gain	See cases	GPathogenic
Select item 365269	NM_007171.3(POMT1):c.-196G>T	POMT1	Single nucleotide variant	Autosomal recessive limb-girdle muscular dystrophy type 2K	GUncertain significance
Select item 365270	NM_007171.3(POMT1):c.-195C>T	POMT1	Single nucleotide variant	Autosomal recessive limb-girdle muscular dystrophy type 2K	GUncertain significance
Select item 365271	NM_001077365.2(POMT1):c.-168G>C	POMT1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K	GUncertain significance
Select item 914770	NM_001077365.2(POMT1):c.-83C>T	POMT1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K	GUncertain significance
Select item 682188	NM_001077365.2(POMT1):c.-37A>G	POMT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 516501	NM_001077365.2(POMT1):c.-31+16C>G	POMT1	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 420324	NM_001077365.2(POMT1):c.-31+228dup	POMT1	Duplication (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 509284	NM_001077365.2(POMT1):c.-30-16C>T	POMT1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 365272	NM_001077365.2(POMT1):c.-30G>A	POMT1	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K	GUncertain significance
Select item 3042695	NM_001077365.2(POMT1):c.-28C>T	POMT1	Single nucleotide variant (5 prime UTR variant +2 more)	POMT1-related disorder	GLikely benign
Select item 365273	NM_001077365.2(POMT1):c.-22C>T	POMT1	Single nucleotide variant (5 prime UTR variant +2 more)	Limb-girdle muscular dystrophy, recessive	GUncertain significance
Select item 260137	NM_001077365.2(POMT1):c.-20T>C	POMT1	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 260138	NM_001077365.2(POMT1):c.-6T>G	POMT1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 2928655	NM_001077365.2(POMT1):c.7G>T (p.Gly3Ter)	POMT1 (G3*)	Single nucleotide variant (nonsense +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GPathogenic
Select item 2078874	NM_001077365.2(POMT1):c.8G>A (p.Gly3Glu)	POMT1 (G3E)	Single nucleotide variant (missense variant +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GUncertain significance
Select item 2041570	NM_001077365.2(POMT1):c.23C>T (p.Pro8Leu)	POMT1 (P8L)	Single nucleotide variant (missense variant +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GUncertain significance
Select item 914771	NM_001077365.2(POMT1):c.26T>C (p.Val9Ala)	POMT1 (V9A)	Single nucleotide variant (intron variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K	GUncertain significance
Select item 538729	NM_001077365.2(POMT1):c.30G>A (p.Val10=)	POMT1	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +3 more	GConflicting classifications of pathogenicity
Select item 3026587	NM_001077365.2(POMT1):c.33G>T (p.Val11=)	POMT1	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GLikely benign
Select item 2926313	NM_001077365.2(POMT1):c.36G>T (p.Thr12=)	POMT1	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 365274	NM_001077365.2(POMT1):c.36G>A (p.Thr12=)	POMT1	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +3 more	GConflicting classifications of pathogenicity
Select item 195272	NM_001077365.2(POMT1):c.42C>T (p.Asp14=)	POMT1	Single nucleotide variant (synonymous variant +3 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2435184	NM_001077365.2(POMT1):c.47A>G (p.Asn16Ser)	POMT1 (N16S)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1446532	NM_001077365.2(POMT1):c.52A>C (p.Ser18Arg)	POMT1 (S18R)	Single nucleotide variant (missense variant +3 more)	Walker-Warburg congenital muscular dystrophy +3 more	GUncertain significance
Select item 1364191	NM_001077365.2(POMT1):c.58dup (p.Val20fs)	POMT1 (V20fs)	Duplication (frameshift variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GPathogenic
Select item 286161	NM_001077365.2(POMT1):c.57T>C (p.Leu19=)	POMT1	Single nucleotide variant (synonymous variant +3 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2137593	NM_001077365.2(POMT1):c.59T>C (p.Val20Ala)	POMT1 (V20A)	Single nucleotide variant (missense variant +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GUncertain significance
Select item 2130005	NM_001077365.2(POMT1):c.62C>T (p.Ala21Val)	POMT1 (A21V)	Single nucleotide variant (missense variant +3 more)	Walker-Warburg congenital muscular dystrophy +2 more	GUncertain significance
Select item 2923523	NM_001077365.2(POMT1):c.63C>T (p.Ala21=)	POMT1	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2435183	NM_001077365.2(POMT1):c.70G>T (p.Gly24Trp)	POMT1 (G24W)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1451349	NM_001077365.2(POMT1):c.72del (p.Met25fs)	POMT1 (M25fs)	Deletion (frameshift variant +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GPathogenic
Select item 2435196	NM_001077365.2(POMT1):c.73A>T (p.Met25Leu)	POMT1 (M25L)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2105584	NM_001077365.2(POMT1):c.75G>T (p.Met25Ile)	POMT1 (M25I)	Single nucleotide variant (missense variant +3 more)	Walker-Warburg congenital muscular dystrophy +2 more	GUncertain significance
Select item 130013	NM_001077365.2(POMT1):c.78G>A (p.Gly26=)	POMT1	Single nucleotide variant (synonymous variant +3 more)	not specified +4 more	GBenign/Likely benign
Select item 2934685	NM_001077365.2(POMT1):c.84G>C (p.Leu28=)	POMT1	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 1462417	NM_001077365.2(POMT1):c.86G>T (p.Ser29Ile)	POMT1 (S29I)	Single nucleotide variant (missense variant +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GUncertain significance
Select item 2921432	NM_001077365.2(POMT1):c.91del (p.Leu31fs)	POMT1 (L31fs)	Deletion (frameshift variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GPathogenic
Select item 1505076	NM_001077365.2(POMT1):c.92T>A (p.Leu31Gln)	POMT1 (L31Q)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GUncertain significance
Select item 2949972	NM_001077365.2(POMT1):c.93del (p.Trp32fs)	POMT1 (W32fs)	Deletion (frameshift variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GPathogenic
Select item 1399708	NM_001077365.2(POMT1):c.97C>T (p.Arg33Ter)	POMT1 (R33*)	Single nucleotide variant (nonsense +3 more)	Walker-Warburg congenital muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 3216740	NM_001077365.2(POMT1):c.100C>T (p.Leu34Phe)	POMT1 (L34F)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2677994	NM_001077365.2(POMT1):c.101_102insTA (p.Tyr36fs)	POMT1 (Y36fs)	Insertion (frameshift variant +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2678009	NM_001077365.2(POMT1):c.103dup (p.Thr35fs)	POMT1 (T35fs)	Duplication (frameshift variant +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	GLikely pathogenic
Select item 2951107	NM_001077365.2(POMT1):c.105C>A (p.Thr35=)	POMT1	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 978655	NM_001077365.2(POMT1):c.110_113dup (p.Val40fs)	POMT1 (V40fs)	Microsatellite (frameshift variant +3 more)	Dysgenesis of the cerebellar vermis	GPathogenic
Select item 2929800	NM_001077365.2(POMT1):c.111G>T (p.Pro37=)	POMT1	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 671763	NM_001077365.2(POMT1):c.111G>A (p.Pro37=)	POMT1	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +3 more	GLikely benign
Select item 386991	NM_001077365.2(POMT1):c.111G>C (p.Pro37=)	POMT1	Single nucleotide variant (synonymous variant +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +3 more	GLikely benign
Select item 1987809	NM_001077365.2(POMT1):c.116C>G (p.Ala39Gly)	POMT1 (A39G)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GUncertain significance
Select item 1399206	NM_001077365.2(POMT1):c.116C>A (p.Ala39Asp)	POMT1 (A39D)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GUncertain significance
Select item 3048283	NM_001077365.2(POMT1):c.120G>C (p.Val40=)	POMT1	Single nucleotide variant (synonymous variant +3 more)	POMT1-related disorder	GLikely benign
Select item 2076197	NM_001077365.2(POMT1):c.120G>A (p.Val40=)	POMT1	Single nucleotide variant (synonymous variant +3 more)	Walker-Warburg congenital muscular dystrophy +2 more	GUncertain significance
Select item 285653	NM_001077365.2(POMT1):c.122+5G>A	POMT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GUncertain significance
Select item 2938864	NM_001077365.2(POMT1):c.122+7T>C	POMT1	Single nucleotide variant (5 prime UTR variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GLikely benign
Select item 2937636	NM_001077365.2(POMT1):c.122+10A>G	POMT1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2952126	NM_001077365.2(POMT1):c.122+13_122+20dup	POMT1	Duplication (5 prime UTR variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2922304	NM_001077365.2(POMT1):c.122+14C>T	POMT1	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2952003	NM_001077365.2(POMT1):c.122+15T>C	POMT1	Single nucleotide variant (intron variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 1219316	NM_001077365.2(POMT1):c.122+248T>C	POMT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1194736	NM_001077365.2(POMT1):c.123-348G>C	POMT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1528866	NM_001077365.2(POMT1):c.123-20GTT[2]	POMT1	Microsatellite (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more	GLikely benign
Select item 1360391	NM_001077365.2(POMT1):c.123-20G>T	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2065524	NM_001077365.2(POMT1):c.123-19T>C	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 1602821	NM_001077365.2(POMT1):c.123-18del	POMT1	Deletion (intron variant)	Walker-Warburg congenital muscular dystrophy +2 more	GLikely benign
Select item 2921435	NM_001077365.2(POMT1):c.123-18T>G	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2952486	NM_001077365.2(POMT1):c.123-17G>A	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2928060	NM_001077365.2(POMT1):c.123-14G>T	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 196450	NM_001077365.2(POMT1):c.123-6_123-5dup	POMT1	Duplication (intron variant)	Limb-girdle muscular dystrophy, recessive +4 more	GBenign/Likely benign
Select item 95453	NM_001077365.2(POMT1):c.123-5dup	POMT1	Duplication (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +6 more	GBenign/Likely benign
Select item 2936987	NM_001077365.2(POMT1):c.123-5del	POMT1	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GBenign
Select item 1598482	NM_001077365.2(POMT1):c.123-13T>G	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2946034	NM_001077365.2(POMT1):c.123-11T>G	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 2951556	NM_001077365.2(POMT1):c.123-7T>C	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 593483	NM_001077365.2(POMT1):c.123-6T>C	POMT1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2029571	NM_001077365.2(POMT1):c.123-5T>C	POMT1	Single nucleotide variant (intron variant)	Walker-Warburg congenital muscular dystrophy +2 more	GLikely benign
Select item 2936833	NM_001077365.2(POMT1):c.123-4C>T	POMT1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 196451	NM_001077365.2(POMT1):c.129C>T (p.Asp43=)	POMT1	Single nucleotide variant (synonymous variant +3 more)	Walker-Warburg congenital muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 1458255	NM_001077365.2(POMT1):c.130G>A (p.Glu44Lys)	POMT1 (E44K)	Single nucleotide variant (missense variant +3 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +3 more	GPathogenic/Likely pathogenic
Select item 95456	NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)	POMT1 (E44D)	Single nucleotide variant (missense variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +6 more	GConflicting classifications of pathogenicity
Select item 2929145	NM_001077365.2(POMT1):c.138T>C (p.Tyr46=)	POMT1	Single nucleotide variant (synonymous variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GLikely benign
Select item 1524993	NM_001077365.2(POMT1):c.139T>G (p.Tyr47Asp)	POMT1 (Y47D)	Single nucleotide variant (intron variant +3 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +2 more	GUncertain significance
Select item 2231313	NM_001077365.2(POMT1):c.141T>G (p.Tyr47Ter)	POMT1 (Y47*)	Single nucleotide variant (nonsense +3 more)	Inborn genetic diseases	GLikely pathogenic
Select item 594857	NM_001077365.2(POMT1):c.141T>C (p.Tyr47=)	POMT1	Single nucleotide variant (synonymous variant +3 more)	not provided +3 more	GConflicting classifications of pathogenicity

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