ClinVar for Gene (Select 126862745) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3007704	NM_001080467.3(MYO5B):c.4315+18_4315+21del	LOC126862745, MYO5B +1 more	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2988765	NM_001080467.3(MYO5B):c.4315+13G>C	LOC126862745, MYO5B +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837537	NM_001080467.3(MYO5B):c.4290C>T (p.Tyr1430=)	LOC126862745, MYO5B +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827695	NM_001080467.3(MYO5B):c.4299A>G (p.Lys1433=)	LOC126862745, MYO5B +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2703820	NM_001080467.3(MYO5B):c.4248G>A (p.Leu1416=)	LOC126862745, MYO5B +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637100	NM_001080467.3(MYO5B):c.4288T>C (p.Tyr1430His)	LOC126862745, MYO5B +1 more (Y1430H)	Single nucleotide variant (missense variant)	MYO5B-related condition	GUncertain significance
Select item 1907125	NM_001080467.3(MYO5B):c.4266G>A (p.Lys1422=)	LOC126862745, MYO5B +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1626256	NM_001080467.3(MYO5B):c.4315+9G>A	LOC126862745, MYO5B +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1594590	NM_001080467.3(MYO5B):c.4302C>T (p.Ala1434=)	LOC126862745, MYO5B +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1516752	NM_001080467.3(MYO5B):c.4271A>G (p.Lys1424Arg)	LOC126862745, MYO5B +1 more (K1424R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1488873	NM_001080467.3(MYO5B):c.4315+5G>T	LOC126862745, MYO5B +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1411751	NM_001080467.3(MYO5B):c.4254G>C (p.Lys1418Asn)	LOC126862745, MYO5B +1 more (K1418N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1265014	NM_001080467.3(MYO5B):c.4222-132C>T	LOC126862745, MYO5B +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1246653	NM_001080467.3(MYO5B):c.4222-73G>C	LOC126862745, MYO5B +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1246590	NM_001080467.3(MYO5B):c.4222-98T>C	LOC126862745, MYO5B +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 594845	NM_001080467.3(MYO5B):c.4240G>A (p.Glu1414Lys)	LOC126862745, MYO5B +1 more (E1414K)	Single nucleotide variant (non-coding transcript variant +1 more)	MYO5B-related condition +2 more	GUncertain significance
Select item 327014	NM_001080467.3(MYO5B):c.4315+5G>C	LOC126862745, MYO5B +1 more	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 327013	NM_001080467.3(MYO5B):c.4315+9G>T	LOC126862745, MYO5B +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062393, LOC130062394 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	DTNA, DYM +1643 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	SKA1, SKOR2 +1089 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LINC01478, LINC01538 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	ACAA2, ADNP2 +887 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC130062575, LOC130062576 +1643 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LINC00683, LINC00907 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LOC125371434, LOC125371435 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	ACAA2, ADNP2 +733 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 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	ACAA2, ADNP2 +1005 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	ABHD3, ACAA2 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC130062446, LOC130062447 +1266 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	ABHD3, ACAA2 +1266 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	RNF138, RNF152 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC126862722, LOC126862723 +1646 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 35