ANKRD66[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 146275	GRCh38/hg38 6p21.1-12.3(chr6:44985760-47986838)x3	ADGRF1, ADGRF2 +78 more	Copy number gain	See cases	GLikely pathogenic
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic
Select item 2544717	NM_001162435.3(ANKRD66):c.-150C>T	ANKRD66	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2298937	NM_001162435.3(ANKRD66):c.-95G>T	ANKRD66	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3126939	NM_001162435.3(ANKRD66):c.-39G>A	ANKRD66	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2470792	NM_001162435.3(ANKRD66):c.-29C>A	ANKRD66	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3298111	NM_001162435.3(ANKRD66):c.18G>A (p.Met6Ile)	ANKRD66 (M6I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298121	NM_001162435.3(ANKRD66):c.76A>C (p.Lys26Gln)	ANKRD66 (K26Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343638	NM_001162435.3(ANKRD66):c.134G>A (p.Arg45Gln)	ANKRD66 (R45Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2402128	NM_001162435.3(ANKRD66):c.181C>T (p.Arg61Trp)	ANKRD66 (R61W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259091	NM_001162435.3(ANKRD66):c.203C>G (p.Ala68Gly)	ANKRD66 (A68G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224960	NM_001162435.3(ANKRD66):c.224G>A (p.Ser75Asn)	ANKRD66 (S75N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466097	NM_001162435.3(ANKRD66):c.274A>G (p.Ile92Val)	ANKRD66 (I92V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2600104	NM_001162435.3(ANKRD66):c.301G>A (p.Ala101Thr)	ANKRD66 (A101T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600117	NM_001162435.3(ANKRD66):c.338C>T (p.Pro113Leu)	ANKRD66 (P113L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126941	NM_001162435.3(ANKRD66):c.386T>A (p.Leu129Gln)	ANKRD66 (L129Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300875	NM_001162435.3(ANKRD66):c.422G>A (p.Cys141Tyr)	ANKRD66 (C141Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398443	NM_001162435.3(ANKRD66):c.434A>G (p.Gln145Arg)	ANKRD66 (Q145R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126942	NM_001162435.3(ANKRD66):c.449T>C (p.Leu150Pro)	ANKRD66 (L150P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458575	NM_001162435.3(ANKRD66):c.458G>A (p.Arg153His)	ANKRD66 (R153H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298123	NM_001162435.3(ANKRD66):c.496C>A (p.Leu166Met)	ANKRD66 (L166M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126943	NM_001162435.3(ANKRD66):c.537T>A (p.Asn179Lys)	ANKRD66 (N179K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301674	NM_001162435.3(ANKRD66):c.551G>T (p.Gly184Val)	ANKRD66 (G184V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527236	GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)	ADGRF5, ANKRD66 +50 more	Copy number loss	not specified	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 563178	GRCh37/hg19 6p12.3(chr6:46717940-46925746)x3	ANKRD66, MEP1A +1 more	Copy number gain	not provided	GLikely benign
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

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Items: 30