"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "PCDHG@"[ge - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2655838	NM_018915.4(PCDHGA2):c.1737C>T (p.Pro579=)	PCDHG@, PCDHGA1 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655839	NM_018915.4(PCDHGA2):c.1783G>A (p.Asp595Asn)	PCDHG@, PCDHGA1 +1 more (D595N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2655840	NM_018915.4(PCDHGA2):c.1936A>G (p.Ile646Val)	PCDHG@, PCDHGA1 +1 more (I646V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2655841	NM_018916.4(PCDHGA3):c.1143G>A (p.Gln381=)	PCDHG@, PCDHGA1 +2 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655842	NM_018922.3(PCDHGB1):c.1222C>A (p.Arg408=)	PCDHG@, PCDHGA1 +3 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655843	NM_018922.3(PCDHGB1):c.1232C>A (p.Thr411Lys)	PCDHG@, PCDHGA1 +3 more (T411K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2655844	NM_018917.4(PCDHGA4):c.409C>T (p.Leu137=)	PCDHG@, PCDHGA1 +4 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655845	NM_018923.3(PCDHGB2):c.319G>A (p.Asp107Asn)	PCDHG@, PCDHGA1 +5 more (D107N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2655846	NM_018918.3(PCDHGA5):c.1776A>G (p.Val592=)	PCDHG@, PCDHGA1 +6 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655847	NM_018924.5(PCDHGB3):c.1839G>A (p.Glu613=)	PCDHG@, PCDHGA1 +7 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655848	NM_018919.3(PCDHGA6):c.2210G>C (p.Gly737Ala)	PCDHG@, PCDHGA1 +8 more (G737A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3024918	NM_018919.3(PCDHGA6):c.2279C>G (p.Thr760Ser)	PCDHG@, PCDHGA1 +8 more (T760S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2655849	NM_018920.4(PCDHGA7):c.2022C>T (p.Asp674=)	PCDHG@, PCDHGA1 +9 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655850	NM_003736.4(PCDHGB4):c.818T>G (p.Val273Gly)	PCDHGB4, PCDHG@ +10 more (V273G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2655851	NM_003736.4(PCDHGB4):c.1500A>G (p.Ser500=)	PCDHGA4, PCDHGA6 +10 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655852	NM_003736.4(PCDHGB4):c.1838G>C (p.Gly613Ala)	PCDHG@, PCDHGA1 +10 more (G613A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2655853	NM_018925.3(PCDHGB5):c.1781C>T (p.Ser594Leu)	PCDHG@, PCDHGA1 +12 more (S594L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2655854	NM_018925.3(PCDHGB5):c.2241C>T (p.Ser747=)	PCDHG@, PCDHGA1 +12 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655855	NM_018921.3(PCDHGA9):c.48A>G (p.Leu16=)	PCDHG@, PCDHGA1 +13 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655856	NM_018921.3(PCDHGA9):c.315C>T (p.Asn105=)	PCDHG@, PCDHGA1 +13 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655857	NM_018926.3(PCDHGB6):c.1146C>T (p.Val382=)	PCDHG@, PCDHGA1 +14 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655858	NM_018926.3(PCDHGB6):c.1962C>T (p.Leu654=)	PCDHG@, PCDHGA1 +14 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655859	NM_018926.3(PCDHGB6):c.2252C>T (p.Ser751Phe)	PCDHGB5, PCDHGB6 +14 more (S751F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2655860	NM_018926.3(PCDHGB6):c.2268T>C (p.Ile756=)	PCDHGA6, PCDHGA7 +14 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655861	NM_018913.3(PCDHGA10):c.990A>G (p.Ala330=)	PCDHG@, PCDHGA1 +15 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 776069	NM_018913.3(PCDHGA10):c.1932A>G (p.Gln644=)	PCDHGB6, PCDHG@ +15 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655862	NM_018913.3(PCDHGA10):c.2109G>C (p.Ala703=)	PCDHG@, PCDHGA1 +15 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 782455	NM_018913.3(PCDHGA10):c.2188C>T (p.Gln730Ter)	PCDHG@, PCDHGA1 +15 more (Q730*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 2655863	NM_003735.3(PCDHGA12):c.1110T>C (p.Asn370=)	PCDHG@, PCDHGA1 +18 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655864	NM_003735.3(PCDHGA12):c.1656G>A (p.Val552=)	PCDHG@, PCDHGA1 +18 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655865	NM_003736.4(PCDHGB4):c.2397+42563A>G	PCDHG@, PCDHGA1 +18 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3025035	NM_018928.3(PCDHGC4):c.1955G>T (p.Ser652Ile)	PCDHG@, PCDHGA1 +20 more (S652I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2655866	NM_018928.3(PCDHGC4):c.2092G>C (p.Val698Leu)	PCDHGB7, PCDHGC3 +20 more (V698L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2655867	NM_018912.3(PCDHGA1):c.2502C>T (p.Thr834=)	PCDHGA11, PCDHGA12 +21 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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Items: 34