79784[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 157456	NM_001025778.1(VRK3):c.-376583_-65+1628dup	IZUMO2, KCNC3 +46 more	Duplication	Normal pregnancy	Gnot provided
Select item 58802	GRCh38/hg38 19q13.33(chr19:50076580-50354608)x3	IZUMO2, KCNC3 +31 more	Copy number gain	See cases	GUncertain significance
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 893825	NM_001145809.2(MYH14):c.-48C>T	MYH14	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 329899	NM_001145809.2(MYH14):c.-37C>T	MYH14	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 893826	NM_001145809.2(MYH14):c.-31C>T	MYH14	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 893827	NM_001145809.2(MYH14):c.-17G>T	MYH14	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 894746	NM_001145809.2(MYH14):c.-15C>G	MYH14	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 329900	NM_001145809.2(MYH14):c.-13C>T	MYH14	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 4A	GBenign
Select item 329901	NM_001145809.2(MYH14):c.-4+8C>A	MYH14	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 1214402	NM_001145809.2(MYH14):c.-3-271G>A	MYH14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215730	NM_001145809.2(MYH14):c.-3-209C>A	MYH14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182737	NM_001145809.2(MYH14):c.-3-69G>A	MYH14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 329902	NM_001145809.2(MYH14):c.-3-6C>T	MYH14	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 1308283	NM_001145809.2(MYH14):c.5C>A (p.Ala2Glu)	MYH14 (A2E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 329903	NM_001145809.2(MYH14):c.5C>T (p.Ala2Val)	MYH14 (A2V)	Single nucleotide variant (missense variant)	Nonsyndromic Hearing Loss, Dominant	GUncertain significance
Select item 894747	NM_001145809.2(MYH14):c.10G>A (p.Val4Met)	MYH14 (V4M)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 2196	NM_001145809.2(MYH14):c.20C>A (p.Ser7Ter)	MYH14 (S7*)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 4A	GPathogenic
Select item 596371	NM_001145809.2(MYH14):c.24G>T (p.Val8=)	MYH14	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 164161	NM_001145809.2(MYH14):c.33G>A (p.Arg11=)	MYH14	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 44065	NM_001145809.2(MYH14):c.33G>C (p.Arg11=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A +2 more	GBenign
Select item 329904	NM_001145809.2(MYH14):c.36G>A (p.Lys12=)	MYH14	Single nucleotide variant (synonymous variant)	MYH14-related disorder +2 more	GBenign/Likely benign
Select item 1412598	NM_001145809.2(MYH14):c.38C>T (p.Ala13Val)	MYH14 (A13V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683513	NM_001145809.2(MYH14):c.46A>G (p.Arg16Gly)	MYH14 (R16G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315361	NM_001145809.2(MYH14):c.47G>C (p.Arg16Thr)	MYH14 (R16T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 930043	NM_001145809.2(MYH14):c.66G>A (p.Glu22=)	MYH14	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1308322	NM_001145809.2(MYH14):c.68C>T (p.Ala23Val)	MYH14 (A23V)	Single nucleotide variant (missense variant)	MYH14-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2880223	NM_001145809.2(MYH14):c.69G>A (p.Ala23=)	MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1376225	NM_001145809.2(MYH14):c.71C>T (p.Ala24Val)	MYH14 (A24V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 930985	NM_001145809.2(MYH14):c.91C>T (p.Pro31Ser)	MYH14 (P31S)	Single nucleotide variant (missense variant)	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	GUncertain significance
Select item 44081	NM_001145809.2(MYH14):c.91C>A (p.Pro31Thr)	MYH14 (P31T)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A +2 more	GBenign
Select item 445916	NM_001145809.2(MYH14):c.94C>T (p.Arg32Cys)	MYH14 (R32C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2129989	NM_001145809.2(MYH14):c.95G>A (p.Arg32His)	MYH14 (R32H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2158905	NM_001145809.2(MYH14):c.96C>T (p.Arg32=)	MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903272	NM_001145809.2(MYH14):c.110G>C (p.Gly37Ala)	MYH14 (G37A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2122880	NM_001145809.2(MYH14):c.115G>A (p.Gly39Arg)	MYH14 (G39R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2236041	NM_001145809.2(MYH14):c.136C>G (p.Pro46Ala)	MYH14 (P46A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2682315	NM_001145809.2(MYH14):c.140A>T (p.Gln47Leu)	MYH14 (Q47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2807469	NM_001145809.2(MYH14):c.157C>T (p.Arg53Trp)	MYH14 (R53W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091435	NM_001145809.2(MYH14):c.158G>C (p.Arg53Pro)	MYH14 (R53P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495050	NM_001145809.2(MYH14):c.158G>A (p.Arg53Gln)	MYH14 (R53Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1954388	NM_001145809.2(MYH14):c.161G>A (p.Arg54His)	MYH14 (R54H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507083	NM_001145809.2(MYH14):c.169T>C (p.Trp57Arg)	MYH14 (W57R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713469	NM_001145809.2(MYH14):c.181G>C (p.Glu61Gln)	MYH14 (E61Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 892757	NM_001145809.2(MYH14):c.192G>A (p.Gly64=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 44052	NM_001145809.2(MYH14):c.192G>T (p.Gly64=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A +2 more	GBenign/Likely benign
Select item 3026476	NM_001145809.2(MYH14):c.204G>C (p.Ala68=)	MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 892758	NM_001145809.2(MYH14):c.204G>A (p.Ala68=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 2869287	NM_001145809.2(MYH14):c.206C>A (p.Ala69Glu)	MYH14 (A69E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1189427	NM_001145809.2(MYH14):c.208C>T (p.Leu70=)	MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1373751	NM_001145809.2(MYH14):c.230A>C (p.Glu77Ala)	MYH14 (E77A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2871720	NM_001145809.2(MYH14):c.234G>A (p.Ala78=)	MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2726333	NM_001145809.2(MYH14):c.238_243del (p.Val80_Glu81del)	MYH14	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2582150	NM_001145809.2(MYH14):c.236A>T (p.Glu79Val)	MYH14 (E79V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3156736	NM_001145809.2(MYH14):c.243G>T (p.Glu81Asp)	MYH14 (E81D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297410	NM_001145809.2(MYH14):c.248C>A (p.Ala83Glu)	MYH14 (A83E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237733	NM_001145809.2(MYH14):c.248C>T (p.Ala83Val)	MYH14 (A83V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2121815	NM_001145809.2(MYH14):c.260G>C (p.Arg87Thr)	MYH14 (R87T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900653	NM_001145809.2(MYH14):c.262C>T (p.Arg88Trp)	MYH14 (R88W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 892759	NM_001145809.2(MYH14):c.263G>A (p.Arg88Gln)	MYH14 (R88Q)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GLikely benign
Select item 521868	NM_001145809.2(MYH14):c.266T>C (p.Leu89Pro)	MYH14 (L89P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2799544	NM_001145809.2(MYH14):c.275C>T (p.Pro92Leu)	MYH14 (P92L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 727036	NM_001145809.2(MYH14):c.276G>A (p.Pro92=)	MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1303000	NM_001145809.2(MYH14):c.278G>T (p.Arg93Leu)	MYH14 (R93L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2808727	NM_001145809.2(MYH14):c.285G>C (p.Gln95His)	MYH14 (Q95H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3156775	NM_001145809.2(MYH14):c.293G>T (p.Arg98Leu)	MYH14 (R98L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 808623	NM_001145809.2(MYH14):c.293G>A (p.Arg98His)	MYH14 (R98H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1536210	NM_001145809.2(MYH14):c.321C>A (p.Ala107=)	MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 791659	NM_001145809.2(MYH14):c.327C>T (p.Asp109=)	MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2728851	NM_001145809.2(MYH14):c.333C>T (p.Ala111=)	MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740370	NM_001145809.2(MYH14):c.351C>T (p.Asn117=)	MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2200	NM_001145809.2(MYH14):c.359C>T (p.Ser120Leu)	MYH14 (S120L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3067627	NM_001145809.2(MYH14):c.360G>T (p.Ser120=)	MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1201171	NM_001145809.2(MYH14):c.371A>G (p.Asn124Ser)	MYH14 (N124S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419302	NM_001145809.2(MYH14):c.377G>A (p.Arg126Gln)	MYH14 (R126Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507238	NM_001145809.2(MYH14):c.381G>C (p.Glu127Asp)	MYH14 (E127D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1176391	NM_001145809.2(MYH14):c.390C>T (p.Tyr130=)	MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 892760	NM_001145809.2(MYH14):c.393C>T (p.Ser131=)	MYH14	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 178410	NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser)	MYH14 (G132S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1619860	NM_001145809.2(MYH14):c.405+12C>T	MYH14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2066040	NM_001145809.2(MYH14):c.405+18G>C	MYH14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201852	NM_001145809.2(MYH14):c.406-313C>T	MYH14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178242	NM_001145809.2(MYH14):c.406-79C>T	MYH14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269762	NM_001145809.2(MYH14):c.406-77G>A	MYH14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1940034	NM_001145809.2(MYH14):c.406-18C>T	MYH14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 376934	NM_001145809.2(MYH14):c.407C>T (p.Thr136Met)	MYH14 (T136M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 723857	NM_001145809.2(MYH14):c.408G>A (p.Thr136=)	MYH14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1050760	NM_001145809.2(MYH14):c.415G>A (p.Gly139Ser)	MYH14 (G139S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1189287	NM_001145809.2(MYH14):c.428T>C (p.Val143Ala)	MYH14 (V143A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 329905	NM_001145809.2(MYH14):c.440C>T (p.Pro147Leu)	MYH14 (P147L)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A	GUncertain significance
Select item 2991437	NM_001145809.2(MYH14):c.441G>A (p.Pro147=)	MYH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 44071	NM_001145809.2(MYH14):c.474T>C (p.Ile158=)	MYH14	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 4A +2 more	GBenign
Select item 1722864	NM_001145809.2(MYH14):c.482T>C (p.Met161Thr)	MYH14 (M161T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 44073	NM_001145809.2(MYH14):c.483G>A (p.Met161Ile)	MYH14 (M161I)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 4A +2 more	GBenign
Select item 286512	NM_001145809.2(MYH14):c.487C>T (p.Arg163Trp)	MYH14 (R163W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698510	NM_001145809.2(MYH14):c.488G>A (p.Arg163Gln)	MYH14 (R163Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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