"GeneDx"[submitter] AND "PAM16"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 1277793	NC_000016.10:g.4340031G>C	PAM16	Single nucleotide variant	not provided	GBenign
Select item 1279559	NM_016069.11(PAM16):c.340C>A (p.Gln114Lys)	CORO7-PAM16, PAM16 (Q1037K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1293803	NM_016069.11(PAM16):c.292-241=	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244473	NM_016069.11(PAM16):c.291+48T>C	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 783731	NM_016069.11(PAM16):c.291+10C>T	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274656	NM_016069.11(PAM16):c.226-54A>G	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259596	NM_016069.11(PAM16):c.225+88T>C	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242286	NM_016069.11(PAM16):c.131G>A (p.Arg44Gln)	CORO7-PAM16, PAM16 (R44Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1272598	NM_016069.11(PAM16):c.89-62G>A	PAM16, CORO7-PAM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243918	NM_016069.11(PAM16):c.89-228A>T	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232778	NM_016069.11(PAM16):c.89-304A>G	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235533	NM_016069.11(PAM16):c.4-84T>G	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241789	NM_016069.11(PAM16):c.3+175C>G	PAM16, CORO7-PAM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241899	NC_000016.10:g.4351487A>G	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269000	NC_000016.10:g.4351556G>T	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GBenign