FAM224B[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488031	Single allele	LINC00685, LOC101929148 +160 more	Duplication	Autism	GLikely pathogenic
Select item 148481	GRCh38/hg38 Yp11.32-q11.222(chrY:10701-17951506)x0	AKAP17A, AMELY +101 more	Copy number loss	See cases	GPathogenic
Select item 146390	GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762)x0	AKAP17A, AMELY +162 more	Copy number loss	See cases	GPathogenic
Select item 146389	GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762)	AKAP17A, AMELY +162 more	Copy number loss	See cases	GPathogenic
Select item 152910	GRCh38/hg38 Yp11.31-q12(chrY:378139-57181562)x1	AKAP17A, AMELY +158 more	Copy number loss	See cases	GPathogenic
Select item 150476	GRCh38/hg38 Yp11.2-q12(chrY:2133003-56884424)x0	AMELY, BPY2 +129 more	Copy number loss	See cases	GPathogenic
Select item 58764	GRCh38/hg38 Yp11.2-q12(chrY:2783624-26637948)x2	AMELY, BPY2 +124 more	Copy number gain	See cases	GPathogenic
Select item 146874	GRCh38/hg38 Yp11.2-q11.23(chrY:2786596-26575961)x0	TTTY3B, TTTY4 +124 more	Copy number loss	See cases	GPathogenic
Select item 58799	GRCh38/hg38 Yp11.2-q11.23(chrY:2786811-26483746)x2	FAM197Y5, FAM197Y6 +124 more	Copy number gain	See cases	GPathogenic
Select item 58798	GRCh38/hg38 Yp11.2-q11.23(chrY:2786811-26463830)x2	AMELY, BPY2 +124 more	Copy number gain	See cases	GPathogenic
Select item 57270	GRCh38/hg38 Yp11.2-q11.223(chrY:2786811-22358529)x2	AMELY, CDY2A +100 more	Copy number gain	See cases	GPathogenic
Select item 60442	GRCh38/hg38 Yp11.2-q11.223(chrY:2787210-22302412)x2	FAM197Y5, FAM197Y6 +100 more	Copy number gain	See cases	GPathogenic
Select item 57173	GRCh38/hg38 Yp11.2-q11.223(chrY:2788370-20525326)x2	TTTY2, TTTY20 +85 more	Copy number gain	See cases	GPathogenic
Select item 147693	GRCh38/hg38 Yp11.2-q11.23(chrY:2855704-24288951)x2	AMELY, BPY2 +110 more	Copy number gain	See cases	GPathogenic
Select item 144552	GRCh38/hg38 Yp11.2-q11.222(chrY:6255441-18435984)x2	AMELY, CDY2A +61 more	Copy number gain	See cases	GPathogenic
Select item 145476	GRCh38/hg38 Yp11.2-q11.23(chrY:6270281-26463761)x0	TMSB4Y, TSPY1 +112 more	Copy number loss	See cases	GPathogenic
Select item 60444	GRCh38/hg38 Yp11.2-q11.23(chrY:6478684-26574618)x2	AMELY, BPY2 +106 more	Copy number gain	See cases	GPathogenic
Select item 153414	GRCh38/hg38 Yq11.21-12(chrY:10624004-57190586)x0	BPY2, BPY2B +77 more	Copy number loss	See cases	GPathogenic
Select item 155354	GRCh38/hg38 Yq11.21-12(chrY:11680193-26653790)x4	BPY2, BPY2B +72 more	Copy number gain	See cases	GLikely pathogenic
Select item 154030	GRCh38/hg38 Yq11.221-12(chrY:12702930-26653790)x1	BPY2, BPY2B +70 more	Copy number gain	See cases	GPathogenic
Select item 153797	GRCh38/hg38 Yq11.221-12(chrY:12881571-26653790)x1	BPY2, BPY2B +69 more	Copy number gain	See cases	GLikely benign
Select item 145999	GRCh38/hg38 Yq11.221-12(chrY:12965721-57212647)x0	LOC107838685, LOC108004538 +74 more	Copy number loss	See cases	GPathogenic
Select item 147317	GRCh38/hg38 Yq11.221-11.223(chrY:13908860-22358529)x1	CDY2A, CDY2B +40 more	Copy number gain	See cases	GPathogenic
Select item 149937	GRCh38/hg38 Yq11.221-12(chrY:14062885-57189762)x0	BPY2, BPY2B +67 more	Copy number loss	See cases	GPathogenic
Select item 144388	GRCh38/hg38 Yq11.221-12(chrY:14076802-57165209)x0	BPY2, BPY2B +66 more	Copy number loss	See cases	GPathogenic
Select item 2584547	GRCh38/hg38 Yq11.221-11.222(chrY:17454742-17459891)	NLGN4Y-AS1, CDY2B +5 more	Copy number gain	Azoospermia	GUncertain significance
Select item 146622	GRCh38/hg38 Yq11.221-12(chrY:15631816-57211010)x0	BPY2, BPY2B +65 more	Copy number loss	See cases	GPathogenic
Select item 151214	GRCh38/hg38 Yq11.221-12(chrY:16311571-57190586)x0	BPY2, BPY2B +64 more	Copy number loss	See cases	GPathogenic
Select item 146459	GRCh38/hg38 Yq11.222(chrY:17251756-19149935)x2	CDY2A, CDY2B +12 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 144362	GRCh38/hg38 Yq11.222(chrY:17307218-18891526)x2	CDY2A, CDY2B +12 more	Copy number gain	See cases	GUncertain significance
Select item 151896	GRCh38/hg38 Yq11.222(chrY:17461577-18520862)x3	CDY2A, CDY2B +6 more	Copy number gain	See cases	GLikely benign
Select item 151887	GRCh38/hg38 Yq11.222(chrY:17461577-18864368)x4	CDY2A, CDY2B +11 more	Copy number gain	See cases	GLikely benign
Select item 60453	GRCh38/hg38 Yq11.222(chrY:17473635-18712542)x2	CDY2A, CDY2B +9 more	Copy number gain	See cases	GUncertain significance
Select item 57717	GRCh38/hg38 Yq11.222(chrY:17473635-18640716)x0	CDY2A, CDY2B +9 more	Copy number loss	See cases	GUncertain significance

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Items: 34