7603[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	LOC130062694, LOC130062695 +887 more	Copy number gain	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LINC01929, LINC02565 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	LOC126862796, LOC126862797 +733 more	Copy number gain	See cases	GPathogenic
Select item 888645	NM_001080467.3(MYO5B):c.*3640A>G	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 888646	NM_001080467.3(MYO5B):c.*3544C>T	SNHG22, MYO5B	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 888647	NM_001080467.3(MYO5B):c.*3428T>C	SNHG22, MYO5B	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 888648	NM_001080467.3(MYO5B):c.*3423G>T	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890347	NM_001080467.3(MYO5B):c.*3391A>G	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890348	NM_001080467.3(MYO5B):c.*3381G>C	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890349	NM_001080467.3(MYO5B):c.*3379A>C	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 326920	NM_001080467.3(MYO5B):c.*3368G>C	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GBenign
Select item 890350	NM_001080467.3(MYO5B):c.*3365T>C	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890351	NM_001080467.3(MYO5B):c.*3364A>G	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890352	NM_001080467.3(MYO5B):c.*3357G>A	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890353	NM_001080467.3(MYO5B):c.*3351A>C	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890910	NM_001080467.3(MYO5B):c.*3342C>G	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890911	NM_001080467.3(MYO5B):c.*3341T>C	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 326921	NM_001080467.3(MYO5B):c.3338_3339insAAAG	MYO5B, SNHG22	Insertion (3 prime UTR variant)	Diarrhea with Microvillus Atrophy	GUncertain significance
Select item 326922	NM_001080467.3(MYO5B):c.*3317C>T	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 326923	NM_001080467.3(MYO5B):c.*3315T>C	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890912	NM_001080467.3(MYO5B):c.*3300A>G	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 326924	NM_001080467.3(MYO5B):c.3294_3295insA	MYO5B, SNHG22	Insertion (3 prime UTR variant)	Diarrhea with Microvillus Atrophy	GUncertain significance
Select item 890913	NM_001080467.3(MYO5B):c.*3292T>C	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890914	NM_001080467.3(MYO5B):c.*3282G>A	SNHG22, MYO5B	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890915	NM_001080467.3(MYO5B):c.*3273G>C	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 326925	NM_001080467.3(MYO5B):c.*3273G>A	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 892147	NM_001080467.3(MYO5B):c.*3239A>G	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 892148	NM_001080467.3(MYO5B):c.*3220C>T	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 892149	NM_001080467.3(MYO5B):c.*3213A>G	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 892150	NM_001080467.3(MYO5B):c.*3208T>C	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 326926	NM_001080467.3(MYO5B):c.*3188G>A	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 326927	NM_001080467.3(MYO5B):c.*3161A>C	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 892151	NM_001080467.3(MYO5B):c.*3158G>A	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 888703	NM_001080467.3(MYO5B):c.*3157G>C	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 326928	NM_001080467.3(MYO5B):c.*3153T>C	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 326929	NM_001080467.3(MYO5B):c.*3149A>C	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 888704	NM_001080467.3(MYO5B):c.*3126A>C	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 888705	NM_001080467.3(MYO5B):c.*3124G>A	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 326930	NM_001080467.3(MYO5B):c.*3102C>A	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 326931	NM_001080467.3(MYO5B):c.*3073T>G	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 326932	NM_001080467.3(MYO5B):c.*3065T>C	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890406	NM_001080467.3(MYO5B):c.*3049G>A	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 326933	NM_001080467.3(MYO5B):c.*3000C>T	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 326934	NM_001080467.3(MYO5B):c.*2974A>G	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 326935	NM_001080467.3(MYO5B):c.*2960T>C	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890407	NM_001080467.3(MYO5B):c.*2956G>A	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890408	NM_001080467.3(MYO5B):c.*2923A>G	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890409	NM_001080467.3(MYO5B):c.*2922C>T	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890410	NM_001080467.3(MYO5B):c.*2919C>T	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890973	NM_001080467.3(MYO5B):c.*2916A>C	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 326936	NM_001080467.3(MYO5B):c.*2912T>C	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890974	NM_001080467.3(MYO5B):c.*2910G>T	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890975	NM_001080467.3(MYO5B):c.*2908C>T	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890976	NM_001080467.3(MYO5B):c.*2896A>T	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890977	NM_001080467.3(MYO5B):c.*2871G>C	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890978	NM_001080467.3(MYO5B):c.*2860T>C	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890979	NM_001080467.3(MYO5B):c.*2838C>A	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 892206	NM_001080467.3(MYO5B):c.*2828G>T	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 892207	NM_001080467.3(MYO5B):c.*2827A>G	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 892208	NM_001080467.3(MYO5B):c.*2825T>A	SNHG22, MYO5B	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 326937	NM_001080467.3(MYO5B):c.*2747A>C	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy +1 more	GBenign
Select item 892209	NM_001080467.3(MYO5B):c.*2730C>A	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 326938	NM_001080467.3(MYO5B):c.*2705dup	MYO5B, SNHG22	Duplication (3 prime UTR variant)	Diarrhea with Microvillus Atrophy	GUncertain significance
Select item 326939	NM_001080467.3(MYO5B):c.*2695A>G	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 326940	NM_001080467.3(MYO5B):c.*2693T>C	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 326941	NM_001080467.3(MYO5B):c.*2672C>T	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 888772	NM_001080467.3(MYO5B):c.*2666A>C	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 888773	NM_001080467.3(MYO5B):c.*2646G>A	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 326942	NM_001080467.3(MYO5B):c.*2645T>G	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GBenign
Select item 326943	NM_001080467.3(MYO5B):c.*2640G>A	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 888774	NM_001080467.3(MYO5B):c.*2571A>G	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GLikely benign
Select item 888775	NM_001080467.3(MYO5B):c.*2550G>T	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 326944	NM_001080467.3(MYO5B):c.*2538G>A	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GLikely benign
Select item 888776	NM_001080467.3(MYO5B):c.*2537G>A	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890479	NM_001080467.3(MYO5B):c.*2534C>T	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890480	NM_001080467.3(MYO5B):c.*2511G>T	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890481	NM_001080467.3(MYO5B):c.*2465G>A	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 326945	NM_001080467.3(MYO5B):c.*2397T>C	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890482	NM_001080467.3(MYO5B):c.*2347T>C	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890483	NM_001080467.3(MYO5B):c.*2339T>C	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 890484	NM_001080467.3(MYO5B):c.*2316A>T	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 326946	NM_001080467.3(MYO5B):c.*2293T>G	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GBenign
Select item 891037	NM_001080467.3(MYO5B):c.*2289C>A	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 891038	NM_001080467.3(MYO5B):c.*2283T>C	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GBenign
Select item 326947	NM_001080467.3(MYO5B):c.*2259G>A	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 891039	NM_001080467.3(MYO5B):c.*2256C>T	MYO5B, SNHG22	Single nucleotide variant (3 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance

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